Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> TTN

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178535342:178535342(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.96350A>G
AA Mutation p.Tyr32117Cys(p.Y32117C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178572580:178572580(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs550593055
CDS Mutation c.68629G>A
AA Mutation p.Asp22877Asn(p.D22877N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178534214:178534214(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.97478A>T
AA Mutation p.Glu32493Val(p.E32493V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178574304:178574304(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.66905T>C
AA Mutation p.Leu22302Pro(p.L22302P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178577193:178577193(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.64219G>A
AA Mutation p.Glu21407Lys(p.E21407K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178735867:178735867(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.13628A>T
AA Mutation p.Gln4543Leu(p.Q4543L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178579752:178579752(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200146608
CDS Mutation c.62522G>A
AA Mutation p.Arg20841Gln(p.R20841Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178552817:178552817(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.85160C>T
AA Mutation p.Ala28387Val(p.A28387V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178564905:178564905(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.76304C>G
AA Mutation p.Pro25435Arg(p.P25435R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178573159:178573159(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.68050G>A
AA Mutation p.Gly22684Arg(p.G22684R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178719239:178719239(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs368226720
CDS Mutation c.23200G>A
AA Mutation p.Asp7734Asn(p.D7734N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178740714:178740714(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11568G>T
AA Mutation p.Glu3856Asp(p.E3856D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178536417:178536417(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.95407A>G
AA Mutation p.Thr31803Ala(p.T31803A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178635974:178635974(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.36674T>C
AA Mutation p.Val12225Ala(p.V12225A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178776955:178776955(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4909G>A
AA Mutation p.Gly1637Ser(p.G1637S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178528593:178528593(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.102235C>A
AA Mutation p.Leu34079Ile(p.L34079I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178535507:178535507(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs576025689
CDS Mutation c.96185G>A
AA Mutation p.Arg32062Gln(p.R32062Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178535594:178535594(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.96098G>T
AA Mutation p.Arg32033Ile(p.R32033I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178545927:178545927(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.90386C>T
AA Mutation p.Thr30129Ile(p.T30129I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178552907:178552907(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs376543931
CDS Mutation c.85070C>T
AA Mutation p.Ser28357Leu(p.S28357L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178553511:178553511(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.84571G>T
AA Mutation p.Asp28191Tyr(p.D28191Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178557127:178557127(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.83104C>T
AA Mutation p.Arg27702Cys(p.R27702C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178560337:178560337(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.80872C>T
AA Mutation p.Arg26958Cys(p.R26958C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178562880:178562880(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.78329A>C
AA Mutation p.Asn26110Thr(p.N26110T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178570045:178570045(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs757511354
CDS Mutation c.71164C>T
AA Mutation p.Arg23722Cys(p.R23722C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178571077:178571077(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.70132A>G
AA Mutation p.Thr23378Ala(p.T23378A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178571724:178571724(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.69485T>G
AA Mutation p.Val23162Gly(p.V23162G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178588661:178588661(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs779112015
CDS Mutation c.58141C>T
AA Mutation p.Arg19381Cys(p.R19381C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178592991:178592991(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.54205A>G
AA Mutation p.Ser18069Gly(p.S18069G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178612369:178612369(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.45233C>A
AA Mutation p.Ser15078Tyr(p.S15078Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178714018:178714018(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.25689C>A
AA Mutation p.Phe8563Leu(p.F8563L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178718121:178718121(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.23934T>G
AA Mutation p.Ile7978Met(p.I7978M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178720414:178720414(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.22397A>G
AA Mutation p.Asp7466Gly(p.D7466G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 34
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178721034:178721034(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.22034C>A
AA Mutation p.Ser7345Tyr(p.S7345Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 35
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178721172:178721172(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.21896C>T
AA Mutation p.Ala7299Val(p.A7299V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 36
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178724416:178724416(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.20008C>A
AA Mutation p.Leu6670Met(p.L6670M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 37
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178725861:178725861(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.19510C>A
AA Mutation p.Leu6504Ile(p.L6504I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 38
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178730635:178730635(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.16947A>C
AA Mutation p.Lys5649Asn(p.K5649N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 39
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178779062:178779062(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4020C>A
AA Mutation p.Asp1340Glu(p.D1340E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 40
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178782373:178782373(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3219A>T
AA Mutation p.Gln1073His(p.Q1073H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 41
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178527301:178527301(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs767565621
CDS Mutation c.102764C>T
AA Mutation p.Pro34255Leu(p.P34255L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 42
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178533951:178533951(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.97741G>A
AA Mutation p.Ala32581Thr(p.A32581T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 43
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178535075:178535075(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.96617C>A
AA Mutation p.Ala32206Asp(p.A32206D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 44
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178537569:178537569(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.94715C>T
AA Mutation p.Thr31572Ile(p.T31572I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 45
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178567105:178567105(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.74104A>T
AA Mutation p.Thr24702Ser(p.T24702S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 46
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178589848:178589848(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs745731267
CDS Mutation c.56954G>A
AA Mutation p.Arg18985Gln(p.R18985Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 47
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178600913:178600913(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.51068C>A
AA Mutation p.Ala17023Asp(p.A17023D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 48
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000591111
Start 178633413:178633413(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.38023G>T
AA Mutation p.Ala12675Ser(p.A12675S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 49
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178694643:178694643(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.30431A>G
AA Mutation p.Lys10144Arg(p.K10144R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 50
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178774302:178774302(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6962A>G
AA Mutation p.Gln2321Arg(p.Q2321R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 51
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000591111
Start 178598654:178598654(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.52040C>G
AA Mutation p.Ala17347Gly(p.A17347G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 52
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178548411:178548411(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs141817409
CDS Mutation c.88292G>A
AA Mutation p.Arg29431His(p.R29431H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 53
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178773626:178773626(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7430A>T
AA Mutation p.Lys2477Met(p.K2477M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 54
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178575804:178575804(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.65405G>T
AA Mutation p.Arg21802Leu(p.R21802L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 55
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178584773:178584773(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.59945A>G
AA Mutation p.Lys19982Arg(p.K19982R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 56
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000591111
Start 178582298:178582298(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.61235A>T
AA Mutation p.Tyr20412Phe(p.Y20412F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 57
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178804623:178804623(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs761344572
CDS Mutation c.20C>T
AA Mutation p.Thr7Met(p.T7M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 58
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178631142:178631142(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.38983G>A
AA Mutation p.Asp12995Asn(p.D12995N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 59
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178563644:178563644(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.77565C>A
AA Mutation p.Asp25855Glu(p.D25855E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 60
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178560384:178560384(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.80825C>A
AA Mutation p.Ser26942Tyr(p.S26942Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 61
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178730536:178730536(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.17046C>A
AA Mutation p.His5682Gln(p.H5682Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 62
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178633587:178633587(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.37849G>A
AA Mutation p.Val12617Ile(p.V12617I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 63
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178590796:178590796(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs569630571
CDS Mutation c.56006G>A
AA Mutation p.Arg18669His(p.R18669H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 64
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178541447:178541447(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.92707G>T
AA Mutation p.Asp30903Tyr(p.D30903Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 65
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178548196:178548196(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.88507C>T
AA Mutation p.Arg29503Trp(p.R29503W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 66
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178618653:178618653(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.41974G>T
AA Mutation p.Gly13992Trp(p.G13992W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 67
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178579705:178579705(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.62569C>A
AA Mutation p.Gln20857Lys(p.Q20857K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 68
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178620008:178620008(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs769044716
CDS Mutation c.41486G>A
AA Mutation p.Arg13829His(p.R13829H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 69
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178547957:178547957(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.88746G>T
AA Mutation p.Gln29582His(p.Q29582H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 70
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178560261:178560261(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs538641703
CDS Mutation c.80948G>A
AA Mutation p.Arg26983His(p.R26983H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 71
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178577426:178577426(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.63986G>T
AA Mutation p.Ser21329Ile(p.S21329I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 72
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178636164:178636164(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs727504780
CDS Mutation c.36484G>A
AA Mutation p.Glu12162Lys(p.E12162K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 73
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178710892:178710892(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs773986121
CDS Mutation c.27254G>A
AA Mutation p.Arg9085His(p.R9085H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 74
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178732656:178732656(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.15454C>A
AA Mutation p.Leu5152Met(p.L5152M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 75
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178528417:178528417(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.102311C>A
AA Mutation p.Ser34104Tyr(p.S34104Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 76
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178536427:178536427(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.95397T>G
AA Mutation p.Ile31799Met(p.I31799M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 77
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178538675:178538675(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs758109676
CDS Mutation c.94231C>T
AA Mutation p.Arg31411Cys(p.R31411C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 78
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178589533:178589533(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.57269A>G
AA Mutation p.Asp19090Gly(p.D19090G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 79
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178642294:178642294(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs769313634
CDS Mutation c.35578C>T
AA Mutation p.Arg11860Cys(p.R11860C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 80
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178728728:178728728(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.18247G>T
AA Mutation p.Asp6083Tyr(p.D6083Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 81
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178732126:178732126(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.15892A>G
AA Mutation p.Met5298Val(p.M5298V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 82
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178741004:178741004(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.11278G>T
AA Mutation p.Asp3760Tyr(p.D3760Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 83
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178773346:178773346(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs368574470
CDS Mutation c.7618C>T
AA Mutation p.Arg2540Cys(p.R2540C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 84
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178775829:178775829(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6035C>A
AA Mutation p.Ala2012Asp(p.A2012D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 85
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178785727:178785727(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs766935265
CDS Mutation c.2386G>A
AA Mutation p.Asp796Asn(p.D796N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 86
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178561549:178561549(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.79660G>A
AA Mutation p.Glu26554Lys(p.E26554K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 87
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178562978:178562978(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.78231C>A
AA Mutation p.Asp26077Glu(p.D26077E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 88
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178588165:178588165(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.58319T>C
AA Mutation p.Ile19440Thr(p.I19440T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 89
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178602560:178602560(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.49919T>C
AA Mutation p.Val16640Ala(p.V16640A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 90
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178709737:178709737(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.27631T>C
AA Mutation p.Tyr9211His(p.Y9211H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 91
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178775535:178775535(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6329A>T
AA Mutation p.Glu2110Val(p.E2110V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 92
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178694634:178694634(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs727504757
CDS Mutation c.30440G>A
AA Mutation p.Arg10147Gln(p.R10147Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 93
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178548426:178548426(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.88277G>A
AA Mutation p.Ser29426Asn(p.S29426N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 94
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178672228:178672228(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs59887778
CDS Mutation c.33848G>A
AA Mutation p.Arg11283His(p.R11283H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 95
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178539573:178539573(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.93569A>G
AA Mutation p.Tyr31190Cys(p.Y31190C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 96
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178546667:178546667(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.89838G>T
AA Mutation p.Lys29946Asn(p.K29946N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 97
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178554103:178554103(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.84085C>A
AA Mutation p.Leu28029Ile(p.L28029I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 98
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178577328:178577328(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.64084T>C
AA Mutation p.Ser21362Pro(p.S21362P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 99
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178583816:178583816(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.60443T>C
AA Mutation p.Ile20148Thr(p.I20148T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 100
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178604720:178604720(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.49446G>T
AA Mutation p.Glu16482Asp(p.E16482D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 101
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178604847:178604847(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.49319C>A
AA Mutation p.Ser16440Tyr(p.S16440Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 102
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178609931:178609931(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.46569G>T
AA Mutation p.Met15523Ile(p.M15523I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 103
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178633835:178633835(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.37741G>A
AA Mutation p.Ala12581Thr(p.A12581T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 104
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178711185:178711185(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.27100T>G
AA Mutation p.Phe9034Val(p.F9034V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 105
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178715016:178715016(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.25219G>A
AA Mutation p.Asp8407Asn(p.D8407N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 106
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178715721:178715721(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.24742G>A
AA Mutation p.Glu8248Lys(p.E8248K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 107
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178727715:178727715(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.18912C>A
AA Mutation p.Phe6304Leu(p.F6304L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 108
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178732203:178732203(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.15815A>T
AA Mutation p.Lys5272Ile(p.K5272I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 109
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178740550:178740550(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.11732C>A
AA Mutation p.Ser3911Tyr(p.S3911Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 110
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178741191:178741191(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.11091G>T
AA Mutation p.Glu3697Asp(p.E3697D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 111
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178793479:178793479(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1461G>T
AA Mutation p.Lys487Asn(p.K487N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 112
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178539588:178539588(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.93554C>A
AA Mutation p.Ala31185Asp(p.A31185D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 113
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178547474:178547474(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.89229T>G
AA Mutation p.Ser29743Arg(p.S29743R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 114
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178557451:178557451(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.82888G>T
AA Mutation p.Gly27630Cys(p.G27630C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 115
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178567933:178567933(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.73276G>A
AA Mutation p.Ala24426Thr(p.A24426T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 116
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178612878:178612878(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.44920C>T
AA Mutation p.Leu14974Phe(p.L14974F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 117
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178704348:178704348(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.29071A>G
AA Mutation p.Met9691Val(p.M9691V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 118
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178532978:178532978(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.98714G>A
AA Mutation p.Arg32905His(p.R32905H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 119
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178539820:178539820(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.93322G>A
AA Mutation p.Ala31108Thr(p.A31108T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 120
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178614922:178614922(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs758130661
CDS Mutation c.43762G>A
AA Mutation p.Val14588Met(p.V14588M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 121
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178707610:178707610(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.28006G>A
AA Mutation p.Ala9336Thr(p.A9336T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 122
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178729784:178729784(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.17518A>G
AA Mutation p.Ile5840Val(p.I5840V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 123
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178799533:178799533(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.868C>G
AA Mutation p.Pro290Ala(p.P290A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 124
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178619846:178619846(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.41548G>A
AA Mutation p.Glu13850Lys(p.E13850K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 125
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178785969:178785969(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2249C>A
AA Mutation p.Pro750His(p.P750H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 126
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178568835:178568835(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.72374A>C
AA Mutation p.Glu24125Ala(p.E24125A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 127
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178605061:178605061(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.49193A>G
AA Mutation p.Asp16398Gly(p.D16398G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 128
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178549042:178549042(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.87661A>G
AA Mutation p.Lys29221Glu(p.K29221E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 129
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178564983:178564983(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.76226A>G
AA Mutation p.Glu25409Gly(p.E25409G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 130
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178771465:178771465(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs753441258
CDS Mutation c.7862C>T
AA Mutation p.Ala2621Val(p.A2621V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 131
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178531377:178531377(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.100315A>G
AA Mutation p.Arg33439Gly(p.R33439G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 132
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178563364:178563364(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.77845G>A
AA Mutation p.Ala25949Thr(p.A25949T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 133
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178704392:178704392(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs575360239
CDS Mutation c.29027G>A
AA Mutation p.Arg9676Gln(p.R9676Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 134
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178769742:178769742(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8839G>A
AA Mutation p.Asp2947Asn(p.D2947N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 135
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178576203:178576203(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.65006A>G
AA Mutation p.Glu21669Gly(p.E21669G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 136
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178675077:178675077(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.33452T>G
AA Mutation p.Ile11151Ser(p.I11151S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 137
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178711211:178711211(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.27074A>G
AA Mutation p.Lys9025Arg(p.K9025R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 138
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178722125:178722125(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.21587A>C
AA Mutation p.Lys7196Thr(p.K7196T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 139
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178723602:178723602(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.20547C>A
AA Mutation p.Phe6849Leu(p.F6849L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 140
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178724083:178724083(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.20225C>A
AA Mutation p.Ala6742Asp(p.A6742D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 141
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178732247:178732247(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.15771A>C
AA Mutation p.Lys5257Asn(p.K5257N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 142
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178536384:178536384(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.95440A>C
AA Mutation p.Lys31814Gln(p.K31814Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 143
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178579801:178579801(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.62473T>G
AA Mutation p.Ser20825Ala(p.S20825A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 144
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178677847:178677847(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.33114A>T
AA Mutation p.Glu11038Asp(p.E11038D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 145
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178565215:178565215(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.75994C>T
AA Mutation p.Pro25332Ser(p.P25332S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 146
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178720971:178720971(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.22097C>T
AA Mutation p.Ala7366Val(p.A7366V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 147
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178607934:178607934(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs371538664
CDS Mutation c.47930G>A
AA Mutation p.Arg15977His(p.R15977H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 148
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178740454:178740454(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs370295357
CDS Mutation c.11828C>T
AA Mutation p.Ala3943Val(p.A3943V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 149
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178792193:178792193(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1541G>T
AA Mutation p.Arg514Ile(p.R514I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 150
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178561578:178561578(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs371516793
CDS Mutation c.79631G>A
AA Mutation p.Arg26544Gln(p.R26544Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 151
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178565578:178565578(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs185887755
CDS Mutation c.75631C>T
AA Mutation p.Arg25211Cys(p.R25211C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 152
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178719806:178719806(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs786205400
CDS Mutation c.22735G>A
AA Mutation p.Glu7579Lys(p.E7579K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 153
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178773993:178773993(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7175G>T
AA Mutation p.Gly2392Val(p.G2392V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 154
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178549780:178549780(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs776885297
CDS Mutation c.87019G>A
AA Mutation p.Gly29007Ser(p.G29007S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 155
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178588078:178588078(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs370687831
CDS Mutation c.58406C>T
AA Mutation p.Ala19469Val(p.A19469V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 156
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178614855:178614855(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.43829A>T
AA Mutation p.Asp14610Val(p.D14610V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 157
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178711224:178711224(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs373598759
CDS Mutation c.27061G>A
AA Mutation p.Gly9021Ser(p.G9021S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 158
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178729510:178729510(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs369242073
CDS Mutation c.17695G>A
AA Mutation p.Val5899Met(p.V5899M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 159
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178565278:178565278(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs371362606
CDS Mutation c.75931G>A
AA Mutation p.Val25311Ile(p.V25311I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 160
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178533707:178533707(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.97985A>T
AA Mutation p.Asn32662Ile(p.N32662I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 161
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178562256:178562256(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.78953T>C
AA Mutation p.Ile26318Thr(p.I26318T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 162
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178600917:178600917(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.51064A>G
AA Mutation p.Asn17022Asp(p.N17022D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 163
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178773333:178773333(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7631G>A
AA Mutation p.Cys2544Tyr(p.C2544Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 164
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178721996:178721996(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs374344734
CDS Mutation c.21716G>T
AA Mutation p.Arg7239Leu(p.R7239L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 165
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178721148:178721148(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.21920A>G
AA Mutation p.Glu7307Gly(p.E7307G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 166
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178782348:178782348(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3244C>T
AA Mutation p.Pro1082Ser(p.P1082S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 167
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178723868:178723868(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.20440C>A
AA Mutation p.Leu6814Ile(p.L6814I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 168
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178608048:178608048(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.47816A>C
AA Mutation p.Asp15939Ala(p.D15939A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 169
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178615344:178615344(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.43678A>G
AA Mutation p.Lys14560Glu(p.K14560E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 170
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178579114:178579114(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.62993A>T
AA Mutation p.Lys20998Met(p.K20998M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 171
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178593784:178593784(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.53593G>C
AA Mutation p.Asp17865His(p.D17865H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 172
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178680305:178680305(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200321239
CDS Mutation c.32416G>A
AA Mutation p.Ala10806Thr(p.A10806T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 173
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178734534:178734534(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.14339A>C
AA Mutation p.Glu4780Ala(p.E4780A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 174
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178681133:178681133(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs377710763
CDS Mutation c.32335C>T
AA Mutation p.Arg10779Cys(p.R10779C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 175
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178531316:178531316(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.100376C>T
AA Mutation p.Ala33459Val(p.A33459V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 176
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000591111
Start 178543660:178543660(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.91390A>G
AA Mutation p.Thr30464Ala(p.T30464A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 177
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178633987:178633987(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.37589A>G
AA Mutation p.His12530Arg(p.H12530R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 178
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178717807:178717807(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs376290076
CDS Mutation c.24116G>A
AA Mutation p.Arg8039His(p.R8039H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 179
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178774362:178774362(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6902A>G
AA Mutation p.His2301Arg(p.H2301R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 180
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178566765:178566765(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.74444A>G
AA Mutation p.Glu24815Gly(p.E24815G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 181
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178540127:178540127(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.93116C>T
AA Mutation p.Ala31039Val(p.A31039V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 182
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178714050:178714050(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.25657C>A
AA Mutation p.Leu8553Ile(p.L8553I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 183
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178549662:178549662(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs767929728
CDS Mutation c.87137G>A
AA Mutation p.Gly29046Asp(p.G29046D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 184
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178784114:178784114(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs141961878
CDS Mutation c.2731G>A
AA Mutation p.Val911Ile(p.V911I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 185
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178551068:178551068(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.86540C>A
AA Mutation p.Pro28847His(p.P28847H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 186
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178565379:178565379(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.75830A>G
AA Mutation p.Glu25277Gly(p.E25277G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 187
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178575966:178575966(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.65243C>T
AA Mutation p.Ala21748Val(p.A21748V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 188
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178597712:178597712(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs142841000
CDS Mutation c.52447G>A
AA Mutation p.Val17483Ile(p.V17483I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 189
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178714444:178714444(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.25379T>C
AA Mutation p.Val8460Ala(p.V8460A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 190
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178575807:178575807(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.65402T>G
AA Mutation p.Leu21801Arg(p.L21801R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 191
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178566224:178566224(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.74985G>T
AA Mutation p.Lys24995Asn(p.K24995N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 192
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178573369:178573369(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.67840A>C
AA Mutation p.Ile22614Leu(p.I22614L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 193
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178533323:178533323(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs192001910
CDS Mutation c.98369C>T
AA Mutation p.Thr32790Met(p.T32790M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 194
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178554085:178554085(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.84103A>G
AA Mutation p.Lys28035Glu(p.K28035E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 195
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178560015:178560015(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs199788826
CDS Mutation c.81194G>A
AA Mutation p.Arg27065Gln(p.R27065Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 196
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178575268:178575268(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs72646892
CDS Mutation c.65941G>A
AA Mutation p.Val21981Ile(p.V21981I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 197
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178533251:178533251(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs756023873
CDS Mutation c.98441G>A
AA Mutation p.Arg32814His(p.R32814H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 198
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178563519:178563519(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.77690A>G
AA Mutation p.His25897Arg(p.H25897R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 199
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178576149:178576149(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.65060C>T
AA Mutation p.Ala21687Val(p.A21687V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 200
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178589611:178589611(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.57191T>C
AA Mutation p.Val19064Ala(p.V19064A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 201
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178633433:178633433(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.38003A>C
AA Mutation p.Lys12668Thr(p.K12668T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 202
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178689876:178689876(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.30832C>T
AA Mutation p.Pro10278Ser(p.P10278S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 203
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178799578:178799578(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.823G>T
AA Mutation p.Ala275Ser(p.A275S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 204
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178537785:178537785(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.94499T>A
AA Mutation p.Leu31500His(p.L31500H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 205
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178571151:178571151(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs531281558
CDS Mutation c.70058C>T
AA Mutation p.Pro23353Leu(p.P23353L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 206
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178717730:178717730(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs776519143
CDS Mutation c.24193C>T
AA Mutation p.Arg8065Cys(p.R8065C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 207
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178614924:178614924(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs368806005
CDS Mutation c.43760G>A
AA Mutation p.Arg14587His(p.R14587H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 208
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178591622:178591622(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs750217838
CDS Mutation c.55274C>T
AA Mutation p.Pro18425Leu(p.P18425L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 209
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178562301:178562301(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.78908G>T
AA Mutation p.Arg26303Ile(p.R26303I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 210
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178704278:178704278(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.29141A>G
AA Mutation p.Gln9714Arg(p.Q9714R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 211
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178731823:178731823(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.16101G>T
AA Mutation p.Lys5367Asn(p.K5367N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 212
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178560180:178560180(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.81029T>C
AA Mutation p.Leu27010Pro(p.L27010P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 213
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178795184:178795184(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs766680186
CDS Mutation c.983G>A
AA Mutation p.Arg328His(p.R328H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 214
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178578835:178578835(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs727505352
CDS Mutation c.63272C>T
AA Mutation p.Ser21091Leu(p.S21091L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 215
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178635975:178635975(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs375474669
CDS Mutation c.36673G>A
AA Mutation p.Val12225Ile(p.V12225I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 216
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178557030:178557030(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs761246441
CDS Mutation c.83201G>A
AA Mutation p.Arg27734His(p.R27734H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 217
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178574338:178574338(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.66871G>A
AA Mutation p.Val22291Ile(p.V22291I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 218
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178577432:178577432(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.63980C>T
AA Mutation p.Ala21327Val(p.A21327V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 219
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178620265:178620265(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.41333C>T
AA Mutation p.Ala13778Val(p.A13778V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 220
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178725965:178725965(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.19406G>T
AA Mutation p.Gly6469Val(p.G6469V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 221
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178775064:178775064(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6647A>C
AA Mutation p.Glu2216Ala(p.E2216A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 222
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178557920:178557920(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.82511T>A
AA Mutation p.Val27504Asp(p.V27504D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 223
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178531427:178531427(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.100265C>A
AA Mutation p.Ala33422Asp(p.A33422D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 224
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178543090:178543090(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs199532781
CDS Mutation c.91960G>A
AA Mutation p.Val30654Met(p.V30654M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 225
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178584354:178584354(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.60274A>G
AA Mutation p.Arg20092Gly(p.R20092G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 226
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178722465:178722465(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs774382033
CDS Mutation c.21371G>A
AA Mutation p.Arg7124Gln(p.R7124Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 227
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178782812:178782812(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs768869901
CDS Mutation c.3094G>A
AA Mutation p.Val1032Met(p.V1032M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 228
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178712153:178712153(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.26726G>T
AA Mutation p.Cys8909Phe(p.C8909F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 229
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178609761:178609761(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs770653436
CDS Mutation c.46739G>A
AA Mutation p.Arg15580His(p.R15580H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 230
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178620400:178620400(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.41198C>T
AA Mutation p.Thr13733Ile(p.T13733I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 231
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178799505:178799505(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs757199733
CDS Mutation c.896C>T
AA Mutation p.Pro299Leu(p.P299L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 232
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178537099:178537099(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.95087C>A
AA Mutation p.Ala31696Asp(p.A31696D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 233
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178602034:178602034(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.50314G>C
AA Mutation p.Glu16772Gln(p.E16772Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 234
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178785691:178785691(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs149155733
CDS Mutation c.2422C>T
AA Mutation p.Arg808Cys(p.R808C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 235
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178718936:178718936(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.23313A>C
AA Mutation p.Glu7771Asp(p.E7771D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 236
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178723943:178723943(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.20365C>A
AA Mutation p.Leu6789Met(p.L6789M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 237
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178577727:178577727(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.63776C>T
AA Mutation p.Ala21259Val(p.A21259V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 238
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178634477:178634477(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs72650080
CDS Mutation c.37381G>A
AA Mutation p.Ala12461Thr(p.A12461T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 239
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178727192:178727192(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.19222A>G
AA Mutation p.Ile6408Val(p.I6408V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 240
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178741112:178741112(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11170A>G
AA Mutation p.Lys3724Glu(p.K3724E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 241
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178775883:178775883(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs758483877
CDS Mutation c.5981C>T
AA Mutation p.Ser1994Leu(p.S1994L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 242
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178539129:178539129(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs764276622
CDS Mutation c.93883C>T
AA Mutation p.Arg31295Cys(p.R31295C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 243
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178580155:178580155(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.62209C>A
AA Mutation p.Pro20737Thr(p.P20737T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 244
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178734799:178734799(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.14174C>T
AA Mutation p.Thr4725Met(p.T4725M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 245
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178532093:178532093(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs373709706
CDS Mutation c.99599G>A
AA Mutation p.Arg33200His(p.R33200H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 246
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178537746:178537746(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs753958605
CDS Mutation c.94538G>A
AA Mutation p.Arg31513His(p.R31513H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 247
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178564486:178564486(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs756815015
CDS Mutation c.76723C>T
AA Mutation p.Arg25575Cys(p.R25575C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 248
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000591111
Start 178591502:178591502(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs376561549
CDS Mutation c.55300C>T
AA Mutation p.Pro18434Ser(p.P18434S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 249
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178633622:178633622(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.37814A>G
AA Mutation p.Asp12605Gly(p.D12605G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 250
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178574589:178574589(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs775670102
CDS Mutation c.66620A>G
AA Mutation p.His22207Arg(p.H22207R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 251
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178706548:178706548(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs143477225
CDS Mutation c.28375G>A
AA Mutation p.Glu9459Lys(p.E9459K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 252
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178712916:178712916(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.26158A>C
AA Mutation p.Thr8720Pro(p.T8720P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 253
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178771321:178771321(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8006C>A
AA Mutation p.Ser2669Tyr(p.S2669Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 254
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000591111
Start 178774108:178774108(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs145039979
CDS Mutation c.7060C>T
AA Mutation p.Arg2354Cys(p.R2354C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 255
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178550072:178550072(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.86843C>T
AA Mutation p.Ala28948Val(p.A28948V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 256
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178564846:178564846(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.76363C>T
AA Mutation p.Pro25455Ser(p.P25455S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 257
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178587612:178587612(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.58774A>G
AA Mutation p.Ile19592Val(p.I19592V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 258
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178734809:178734809(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.14164C>T
AA Mutation p.Leu4722Phe(p.L4722F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 259
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178574701:178574701(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.66508C>T
AA Mutation p.Pro22170Ser(p.P22170S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 260
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178741190:178741190(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.11092A>G
AA Mutation p.Asn3698Asp(p.N3698D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 261
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178534065:178534065(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs776306284
CDS Mutation c.97627G>A
AA Mutation p.Glu32543Lys(p.E32543K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 262
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178531433:178531433(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs762136167
CDS Mutation c.100259C>T
AA Mutation p.Ala33420Val(p.A33420V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 263
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178586631:178586631(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.59347C>A
AA Mutation p.Leu19783Met(p.L19783M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 264
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178614965:178614965(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.43719G>A
AA Mutation p.Met14573Ile(p.M14573I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 265
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000591111
Start 178631034:178631034(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.39091G>T
AA Mutation p.Asp13031Tyr(p.D13031Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 266
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178559938:178559938(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.81271G>T
AA Mutation p.Gly27091Cys(p.G27091C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 267
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178589257:178589257(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs758019778
CDS Mutation c.57545G>A
AA Mutation p.Arg19182His(p.R19182H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 268
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178704608:178704608(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs182332374
CDS Mutation c.28913G>A
AA Mutation p.Arg9638Gln(p.R9638Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 269
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178602054:178602054(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.50294C>A
AA Mutation p.Pro16765Gln(p.P16765Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 270
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000591111
Start 178774207:178774207(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs753386940
CDS Mutation c.7057C>T
AA Mutation p.Pro2353Ser(p.P2353S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 271
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178571020:178571020(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.70189A>C
AA Mutation p.Ile23397Leu(p.I23397L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 272
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178575802:178575802(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.65407C>T
AA Mutation p.Pro21803Ser(p.P21803S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 273
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178604095:178604095(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.49669A>G
AA Mutation p.Ile16557Val(p.I16557V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 274
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178605230:178605230(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.49024C>T
AA Mutation p.Pro16342Ser(p.P16342S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 275
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178616536:178616536(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.43332T>A
AA Mutation p.Ser14444Arg(p.S14444R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 276
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178675094:178675094(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.33435G>T
AA Mutation p.Lys11145Asn(p.K11145N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 277
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000591111
Start 178704510:178704510(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.29011G>A
AA Mutation p.Glu9671Lys(p.E9671K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 278
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178779400:178779400(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3792G>T
AA Mutation p.Lys1264Asn(p.K1264N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 279
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178539132:178539132(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.93880G>A
AA Mutation p.Glu31294Lys(p.E31294K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 280
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178733839:178733839(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.14599A>C
AA Mutation p.Thr4867Pro(p.T4867P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 281
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178759052:178759052(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.10235G>T
AA Mutation p.Gly3412Val(p.G3412V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 282
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178568286:178568286(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.72923C>T
AA Mutation p.Thr24308Ile(p.T24308I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 283
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178615746:178615746(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.43432C>A
AA Mutation p.Leu14478Ile(p.L14478I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 284
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178732341:178732341(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.15677C>A
AA Mutation p.Ala5226Asp(p.A5226D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 285
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178545552:178545552(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs754151944
CDS Mutation c.90635G>A
AA Mutation p.Arg30212His(p.R30212H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 286
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178554615:178554615(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs539906386
CDS Mutation c.83809C>T
AA Mutation p.Arg27937Cys(p.R27937C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 287
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178575708:178575708(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs370257707
CDS Mutation c.65501G>A
AA Mutation p.Arg21834His(p.R21834H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 288
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178733461:178733461(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs754692422
CDS Mutation c.14881G>A
AA Mutation p.Ala4961Thr(p.A4961T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 289
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178785930:178785930(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2288C>G
AA Mutation p.Ala763Gly(p.A763G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 290
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178576020:178576020(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs767208489
CDS Mutation c.65189G>A
AA Mutation p.Arg21730His(p.R21730H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 291
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178792132:178792132(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1602A>C
AA Mutation p.Glu534Asp(p.E534D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 292
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178704752:178704752(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.28769A>T
AA Mutation p.Glu9590Val(p.E9590V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 293
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178564728:178564728(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.76481C>A
AA Mutation p.Thr25494Asn(p.T25494N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 294
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178538815:178538815(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.94091T>A
AA Mutation p.Leu31364His(p.L31364H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 295
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178554969:178554969(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.83567C>A
AA Mutation p.Ser27856Tyr(p.S27856Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 296
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178571152:178571152(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.70057C>A
AA Mutation p.Pro23353Thr(p.P23353T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 297
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178717123:178717123(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.24660C>G
AA Mutation p.Asp8220Glu(p.D8220E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 298
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178542721:178542721(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.92210C>T
AA Mutation p.Thr30737Ile(p.T30737I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 299
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178592263:178592263(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.54718C>T
AA Mutation p.Pro18240Ser(p.P18240S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 300
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178774107:178774107(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs75031300
CDS Mutation c.7061G>A
AA Mutation p.Arg2354His(p.R2354H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 301
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178722775:178722775(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.21173A>G
AA Mutation p.Asn7058Ser(p.N7058S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 302
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178709815:178709815(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs368162634
CDS Mutation c.27553A>G
AA Mutation p.Thr9185Ala(p.T9185A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 303
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178714445:178714445(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs376823283
CDS Mutation c.25378G>A
AA Mutation p.Val8460Ile(p.V8460I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 304
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178722809:178722809(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs397517500
CDS Mutation c.21139C>T
AA Mutation p.Arg7047Trp(p.R7047W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 305
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178719741:178719741(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.22800A>C
AA Mutation p.Glu7600Asp(p.E7600D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 306
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178539904:178539904(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs533651182
CDS Mutation c.93238G>A
AA Mutation p.Val31080Ile(p.V31080I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 307
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178563599:178563599(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.77610G>T
AA Mutation p.Lys25870Asn(p.K25870N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 308
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178583880:178583880(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.60379G>A
AA Mutation p.Asp20127Asn(p.D20127N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 309
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178724051:178724051(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.20257T>C
AA Mutation p.Ser6753Pro(p.S6753P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 310
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178735913:178735913(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs373378672
CDS Mutation c.13582G>A
AA Mutation p.Asp4528Asn(p.D4528N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 311
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178534340:178534340(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs757918924
CDS Mutation c.97352G>A
AA Mutation p.Arg32451His(p.R32451H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 312
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178714130:178714130(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs72648990
CDS Mutation c.25577C>T
AA Mutation p.Thr8526Met(p.T8526M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 313
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178531967:178531967(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs368063908
CDS Mutation c.99725G>A
AA Mutation p.Arg33242His(p.R33242H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 314
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178532891:178532891(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs753392761
CDS Mutation c.98801G>A
AA Mutation p.Arg32934His(p.R32934H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 315
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178567054:178567054(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.74155C>T
AA Mutation p.Arg24719Cys(p.R24719C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 316
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178688147:178688147(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.31324G>A
AA Mutation p.Glu10442Lys(p.E10442K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 317
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178569426:178569426(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.71783A>G
AA Mutation p.Asp23928Gly(p.D23928G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 318
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178611100:178611100(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.46106C>T
AA Mutation p.Ala15369Val(p.A15369V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 319
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178769726:178769726(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8855C>T
AA Mutation p.Thr2952Ile(p.T2952I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 320
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178689582:178689582(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.30909G>T
AA Mutation p.Gln10303His(p.Q10303H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 321
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178547141:178547141(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.89461C>T
AA Mutation p.Pro29821Ser(p.P29821S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 322
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178562394:178562394(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.78815G>T
AA Mutation p.Cys26272Phe(p.C26272F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 323
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178574848:178574848(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.66361T>C
AA Mutation p.Tyr22121His(p.Y22121H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 324
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178584813:178584813(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.59905G>A
AA Mutation p.Ala19969Thr(p.A19969T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 325
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178593999:178593999(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs571477228
CDS Mutation c.53471C>T
AA Mutation p.Thr17824Ile(p.T17824I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 326
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178711234:178711234(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.27051G>T
AA Mutation p.Trp9017Cys(p.W9017C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 327
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178721070:178721070(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs144326093
CDS Mutation c.21998A>G
AA Mutation p.His7333Arg(p.H7333R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 328
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178544267:178544267(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs756469423
CDS Mutation c.91039G>A
AA Mutation p.Val30347Met(p.V30347M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 329
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178590694:178590694(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.56108G>T
AA Mutation p.Arg18703Ile(p.R18703I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 330
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178552647:178552647(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.85330A>G
AA Mutation p.Thr28444Ala(p.T28444A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 331
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178592643:178592643(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.54439C>A
AA Mutation p.Leu18147Ile(p.L18147I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 332
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178599638:178599638(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs143659933
CDS Mutation c.51340C>T
AA Mutation p.Arg17114Cys(p.R17114C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 333
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178731894:178731894(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.16030G>A
AA Mutation p.Ala5344Thr(p.A5344T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 334
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178616992:178616992(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.42974G>C
AA Mutation p.Ser14325Thr(p.S14325T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 335
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178547793:178547793(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.88910G>A
AA Mutation p.Ser29637Asn(p.S29637N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 336
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178561350:178561350(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.79859T>G
AA Mutation p.Val26620Gly(p.V26620G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 337
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178620009:178620009(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs373502448
CDS Mutation c.41485C>T
AA Mutation p.Arg13829Cys(p.R13829C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 338
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178642281:178642281(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs371714559
CDS Mutation c.35591C>T
AA Mutation p.Pro11864Leu(p.P11864L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 339
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178735555:178735555(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.13940A>T
AA Mutation p.Asn4647Ile(p.N4647I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 340
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178530860:178530860(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs368151146
CDS Mutation c.100832G>A
AA Mutation p.Arg33611Gln(p.R33611Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 341
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178739287:178739287(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12995A>C
AA Mutation p.Lys4332Thr(p.K4332T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 342
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178802150:178802150(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs774434865
CDS Mutation c.283C>T
AA Mutation p.Leu95Phe(p.L95F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 343
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178590017:178590017(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.56785C>A
AA Mutation p.Pro18929Thr(p.P18929T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 344
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178544047:178544047(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs755271215
CDS Mutation c.91174C>T
AA Mutation p.Arg30392Cys(p.R30392C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 345
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178790001:178790001(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1915C>A
AA Mutation p.Gln639Lys(p.Q639K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 346
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178583197:178583197(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.60683T>C
AA Mutation p.Met20228Thr(p.M20228T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 347
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178572285:178572285(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs201694149
CDS Mutation c.68924G>A
AA Mutation p.Arg22975Gln(p.R22975Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 348
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178740173:178740173(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12109G>T
AA Mutation p.Asp4037Tyr(p.D4037Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 349
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178536351:178536351(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs371908649
CDS Mutation c.95473C>T
AA Mutation p.Arg31825Cys(p.R31825C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 350
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178543837:178543837(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.91384T>G
AA Mutation p.Tyr30462Asp(p.Y30462D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 351
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178549071:178549071(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.87632A>C
AA Mutation p.Glu29211Ala(p.E29211A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 352
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178560359:178560359(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.80850G>T
AA Mutation p.Glu26950Asp(p.E26950D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 353
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178564041:178564041(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.77168T>C
AA Mutation p.Val25723Ala(p.V25723A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 354
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178572218:178572218(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.68991G>T
AA Mutation p.Glu22997Asp(p.E22997D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 355
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178579663:178579663(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs786205540
CDS Mutation c.62611G>T
AA Mutation p.Asp20871Tyr(p.D20871Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 356
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178604026:178604026(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.49738A>T
AA Mutation p.Ile16580Leu(p.I16580L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 357
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178609294:178609294(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.47093C>A
AA Mutation p.Ser15698Tyr(p.S15698Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 358
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178611590:178611590(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.45716G>T
AA Mutation p.Gly15239Val(p.G15239V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 359
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178613765:178613765(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.44595G>T
AA Mutation p.Lys14865Asn(p.K14865N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 360
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178614603:178614603(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.43988G>T
AA Mutation p.Arg14663Ile(p.R14663I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 361
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178684041:178684041(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.31813C>A
AA Mutation p.Leu10605Met(p.L10605M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 362
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178713133:178713133(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.26050A>G
AA Mutation p.Thr8684Ala(p.T8684A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 363
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178723945:178723945(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.20363C>A
AA Mutation p.Ser6788Tyr(p.S6788Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 364
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178727356:178727356(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.19058T>C
AA Mutation p.Val6353Ala(p.V6353A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 365
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178728367:178728367(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.18506A>C
AA Mutation p.Lys6169Thr(p.K6169T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 366
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178731428:178731428(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.16387T>G
AA Mutation p.Phe5463Val(p.F5463V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 367
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178734488:178734488(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.14385G>T
AA Mutation p.Lys4795Asn(p.K4795N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 368
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178741619:178741619(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs754936734
CDS Mutation c.10663G>A
AA Mutation p.Gly3555Ser(p.G3555S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 369
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178775744:178775744(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6120C>A
AA Mutation p.His2040Gln(p.H2040Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 370
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178779403:178779403(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3789A>G
AA Mutation p.Ile1263Met(p.I1263M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 371
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178790046:178790046(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1870G>A
AA Mutation p.Asp624Asn(p.D624N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 372
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178776283:178776283(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs532733393
CDS Mutation c.5581C>T
AA Mutation p.Arg1861Cys(p.R1861C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 373
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178565203:178565203(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.76006G>A
AA Mutation p.Val25336Ile(p.V25336I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 374
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178624701:178624701(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.39656A>G
AA Mutation p.Glu13219Gly(p.E13219G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 375
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178597673:178597673(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.52486G>T
AA Mutation p.Ala17496Ser(p.A17496S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 376
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178607408:178607408(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.48357A>C
AA Mutation p.Glu16119Asp(p.E16119D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 377
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178615706:178615706(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs397517593
CDS Mutation c.43472G>A
AA Mutation p.Arg14491His(p.R14491H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 378
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178635504:178635504(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.36897A>C
AA Mutation p.Glu12299Asp(p.E12299D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 379
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178731729:178731729(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.16195G>T
AA Mutation p.Gly5399Cys(p.G5399C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 380
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178539538:178539538(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.93604T>C
AA Mutation p.Trp31202Arg(p.W31202R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 381
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178612136:178612136(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.45352G>T
AA Mutation p.Ala15118Ser(p.A15118S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 382
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178534421:178534421(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs769936820
CDS Mutation c.97271C>T
AA Mutation p.Ser32424Leu(p.S32424L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 383
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178615355:178615355(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs369826752
CDS Mutation c.43667G>A
AA Mutation p.Arg14556His(p.R14556H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 384
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178800652:178800652(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs766434493
CDS Mutation c.326G>A
AA Mutation p.Arg109Gln(p.R109Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 385
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178533182:178533182(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.98510A>G
AA Mutation p.Asp32837Gly(p.D32837G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 386
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178543540:178543540(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.91510C>T
AA Mutation p.Arg30504Cys(p.R30504C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 387
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178551803:178551803(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.86174G>T
AA Mutation p.Arg28725Ile(p.R28725I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 388
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178565574:178565574(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.75635T>G
AA Mutation p.Val25212Gly(p.V25212G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 389
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178570123:178570123(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs764447275
CDS Mutation c.71086C>A
AA Mutation p.Leu23696Ile(p.L23696I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 390
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178594222:178594222(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs377633051
CDS Mutation c.53248G>A
AA Mutation p.Asp17750Asn(p.D17750N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 391
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178597690:178597690(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.52469G>T
AA Mutation p.Arg17490Ile(p.R17490I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 392
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178610364:178610364(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.46239T>G
AA Mutation p.Ile15413Met(p.I15413M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 393
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178620012:178620012(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.41482T>G
AA Mutation p.Ser13828Ala(p.S13828A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 394
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178629306:178629306(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs753053245
CDS Mutation c.39496G>A
AA Mutation p.Asp13166Asn(p.D13166N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 395
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178693615:178693615(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.30637C>T
AA Mutation p.Pro10213Ser(p.P10213S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 396
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178720460:178720460(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs72648973
CDS Mutation c.22351G>A
AA Mutation p.Asp7451Asn(p.D7451N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 397
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178723877:178723877(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs727505031
CDS Mutation c.20431C>T
AA Mutation p.Arg6811Cys(p.R6811C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 398
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178729338:178729338(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.17867T>C
AA Mutation p.Val5956Ala(p.V5956A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 399
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178740368:178740368(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11914C>T
AA Mutation p.Pro3972Ser(p.P3972S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 400
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178740843:178740843(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11439A>C
AA Mutation p.Glu3813Asp(p.E3813D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 401
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178741162:178741162(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11120C>T
AA Mutation p.Ala3707Val(p.A3707V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 402
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178773539:178773539(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs758719859
CDS Mutation c.7517G>A
AA Mutation p.Arg2506Gln(p.R2506Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 403
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178782899:178782899(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs774551765
CDS Mutation c.3007C>T
AA Mutation p.Arg1003Cys(p.R1003C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 404
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178799835:178799835(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs794729621
CDS Mutation c.659G>A
AA Mutation p.Arg220Gln(p.R220Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 405
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178776747:178776747(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5117A>T
AA Mutation p.Lys1706Met(p.K1706M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 406
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178601324:178601324(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs115867512
CDS Mutation c.50750G>A
AA Mutation p.Arg16917His(p.R16917H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 407
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178651265:178651265(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.35082G>T
AA Mutation p.Lys11694Asn(p.K11694N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 408
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000591111
Start 178554216:178554216(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.83972T>C
AA Mutation p.Val27991Ala(p.V27991A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 409
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178564980:178564980(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.76229A>G
AA Mutation p.Asn25410Ser(p.N25410S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 410
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178567471:178567471(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.73738C>T
AA Mutation p.Pro24580Ser(p.P24580S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 411
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178571217:178571217(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.69992G>T
AA Mutation p.Gly23331Val(p.G23331V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 412
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178611632:178611632(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs774137928
CDS Mutation c.45674G>A
AA Mutation p.Arg15225Lys(p.R15225K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 413
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178651521:178651521(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.34958A>G
AA Mutation p.Lys11653Arg(p.K11653R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 414
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178684372:178684372(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs745933292
CDS Mutation c.31729C>A
AA Mutation p.Leu10577Ile(p.L10577I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 415
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178712844:178712844(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.26230C>A
AA Mutation p.Pro8744Thr(p.P8744T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 416
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178717188:178717188(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs775937094
CDS Mutation c.24595C>T
AA Mutation p.Leu8199Phe(p.L8199F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 417
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178717679:178717679(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.24244C>A
AA Mutation p.Leu8082Ile(p.L8082I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 418
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178729537:178729537(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.17668C>T
AA Mutation p.Pro5890Ser(p.P5890S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 419
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178734450:178734450(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.14423C>A
AA Mutation p.Ser4808Tyr(p.S4808Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 420
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178785648:178785648(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2465C>A
AA Mutation p.Ser822Tyr(p.S822Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 421
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178590922:178590922(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.55880A>C
AA Mutation p.Lys18627Thr(p.K18627T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 422
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178592055:178592055(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs374914334
CDS Mutation c.54926G>A
AA Mutation p.Arg18309Gln(p.R18309Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 423
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178591880:178591880(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.55016C>T
AA Mutation p.Pro18339Leu(p.P18339L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 424
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178609541:178609541(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.46846C>G
AA Mutation p.Leu15616Val(p.L15616V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 425
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178617835:178617835(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.42593T>A
AA Mutation p.Ile14198Asn(p.I14198N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 426
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178774993:178774993(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6718G>C
AA Mutation p.Asp2240His(p.D2240H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 427
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178722919:178722919(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs727504975
CDS Mutation c.21029C>T
AA Mutation p.Thr7010Met(p.T7010M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 428
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178632936:178632936(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.38272G>A
AA Mutation p.Ala12758Thr(p.A12758T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 429
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178571664:178571664(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.69545C>T
AA Mutation p.Ala23182Val(p.A23182V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 430
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178574277:178574277(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.66932G>T
AA Mutation p.Gly22311Val(p.G22311V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 431
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178706574:178706574(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.28349G>T
AA Mutation p.Gly9450Val(p.G9450V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 432
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178722297:178722297(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.21539T>A
AA Mutation p.Leu7180His(p.L7180H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 433
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178730944:178730944(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.16770G>T
AA Mutation p.Lys5590Asn(p.K5590N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 434
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178776123:178776123(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs374203813
CDS Mutation c.5741C>T
AA Mutation p.Ala1914Val(p.A1914V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 435
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178678431:178678431(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.32942A>G
AA Mutation p.Glu10981Gly(p.E10981G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 436
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178612859:178612859(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.44939A>G
AA Mutation p.Tyr14980Cys(p.Y14980C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 437
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178712012:178712012(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.26867G>A
AA Mutation p.Gly8956Glu(p.G8956E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 438
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178713124:178713124(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.26059G>A
AA Mutation p.Ala8687Thr(p.A8687T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 439
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178800452:178800452(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.526G>A
AA Mutation p.Val176Ile(p.V176I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 440
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178534953:178534953(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.96739T>G
AA Mutation p.Leu32247Val(p.L32247V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 441
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178542935:178542935(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.91996G>A
AA Mutation p.Asp30666Asn(p.D30666N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 442
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178555005:178555005(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.83531C>T
AA Mutation p.Ala27844Val(p.A27844V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 443
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178557099:178557099(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.83132T>C
AA Mutation p.Val27711Ala(p.V27711A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 444
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178559454:178559454(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.81755T>A
AA Mutation p.Val27252Asp(p.V27252D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 445
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178561534:178561534(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs769081825
CDS Mutation c.79675C>T
AA Mutation p.Leu26559Phe(p.L26559F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 446
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178572444:178572444(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.68765G>T
AA Mutation p.Arg22922Ile(p.R22922I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 447
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178572940:178572940(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs779146599
CDS Mutation c.68269C>T
AA Mutation p.Arg22757Cys(p.R22757C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 448
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178575614:178575614(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.65595C>A
AA Mutation p.Phe21865Leu(p.F21865L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 449
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178575936:178575936(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.65273T>G
AA Mutation p.Leu21758Arg(p.L21758R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 450
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178579619:178579619(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.62655G>T
AA Mutation p.Glu20885Asp(p.E20885D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 451
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178594007:178594007(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.53463G>T
AA Mutation p.Glu17821Asp(p.E17821D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 452
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178608331:178608331(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200974180
CDS Mutation c.47629C>T
AA Mutation p.Arg15877Cys(p.R15877C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 453
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178611830:178611830(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs727503620
CDS Mutation c.45556C>T
AA Mutation p.Arg15186Trp(p.R15186W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 454
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178620542:178620542(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs367774903
CDS Mutation c.41056C>T
AA Mutation p.Arg13686Cys(p.R13686C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 455
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178688744:178688744(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.31179G>T
AA Mutation p.Lys10393Asn(p.K10393N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 456
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178706730:178706730(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs533172128
CDS Mutation c.28193C>T
AA Mutation p.Ala9398Val(p.A9398V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 457
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178710874:178710874(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.27272C>T
AA Mutation p.Ala9091Val(p.A9091V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 458
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178723171:178723171(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.20885T>C
AA Mutation p.Val6962Ala(p.V6962A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 459
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178730625:178730625(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.16957C>T
AA Mutation p.His5653Tyr(p.H5653Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 460
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000591111
Start 178733517:178733517(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.14825A>C
AA Mutation p.Glu4942Ala(p.E4942A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 461
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178734884:178734884(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs143093473
CDS Mutation c.14089A>G
AA Mutation p.Thr4697Ala(p.T4697A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 462
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178738196:178738196(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.13306T>G
AA Mutation p.Tyr4436Asp(p.Y4436D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 463
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178740839:178740839(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11443C>A
AA Mutation p.Leu3815Ile(p.L3815I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 464
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178766506:178766506(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9578G>A
AA Mutation p.Arg3193Gln(p.R3193Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 465
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178775620:178775620(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs750064248
CDS Mutation c.6244G>A
AA Mutation p.Glu2082Lys(p.E2082K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 466
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178552719:178552719(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs138958733
CDS Mutation c.85258G>A
AA Mutation p.Val28420Ile(p.V28420I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 467
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178589384:178589384(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.57418G>C
AA Mutation p.Val19140Leu(p.V19140L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 468
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178776610:178776610(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5254C>T
AA Mutation p.Arg1752Cys(p.R1752C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 469
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178560816:178560816(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs764437671
CDS Mutation c.80393G>A
AA Mutation p.Arg26798Gln(p.R26798Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 470
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178535029:178535029(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.96663G>T
AA Mutation p.Lys32221Asn(p.K32221N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 471
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178562394:178562394(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.78815G>A
AA Mutation p.Cys26272Tyr(p.C26272Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 472
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178580516:178580516(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs537871205
CDS Mutation c.61940G>A
AA Mutation p.Arg20647His(p.R20647H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 473
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178594538:178594538(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs369082749
CDS Mutation c.53033A>G
AA Mutation p.Tyr17678Cys(p.Y17678C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 474
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000591111
Start 178616480:178616480(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.43388A>C
AA Mutation p.Lys14463Thr(p.K14463T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 475
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178546729:178546729(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.89776A>T
AA Mutation p.Asn29926Tyr(p.N29926Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 476
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178552337:178552337(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.85640C>T
AA Mutation p.Thr28547Ile(p.T28547I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 477
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178574785:178574785(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs754516257
CDS Mutation c.66424C>T
AA Mutation p.Arg22142Cys(p.R22142C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 478
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178587915:178587915(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.58569A>C
AA Mutation p.Lys19523Asn(p.K19523N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 479
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178591378:178591378(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.55424G>T
AA Mutation p.Gly18475Val(p.G18475V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 480
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178692087:178692087(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.30740C>T
AA Mutation p.Pro10247Leu(p.P10247L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 481
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178799512:178799512(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.889C>T
AA Mutation p.Arg297Trp(p.R297W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 482
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178548360:178548360(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs367993101
CDS Mutation c.88343G>A
AA Mutation p.Arg29448His(p.R29448H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 483
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000591111
Start 178601882:178601882(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.50379G>T
AA Mutation p.Gln16793His(p.Q16793H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 484
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178704620:178704620(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.28901T>C
AA Mutation p.Ile9634Thr(p.I9634T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 485
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178715249:178715249(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs144587343
CDS Mutation c.24986G>A
AA Mutation p.Arg8329His(p.R8329H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 486
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000591111
Start 178783721:178783721(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs761200839
CDS Mutation c.2840C>T
AA Mutation p.Ser947Leu(p.S947L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 487
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178532282:178532282(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs762158917
CDS Mutation c.99410C>T
AA Mutation p.Thr33137Met(p.T33137M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 488
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178590650:178590650(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs762408700
CDS Mutation c.56152A>G
AA Mutation p.Ser18718Gly(p.S18718G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 489
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178599047:178599047(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.51740C>T
AA Mutation p.Pro17247Leu(p.P17247L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 490
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178729415:178729415(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.17790G>T
AA Mutation p.Leu5930Phe(p.L5930F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 491
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178544345:178544345(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.90961A>T
AA Mutation p.Asn30321Tyr(p.N30321Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 492
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178528782:178528782(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.102046G>T
AA Mutation p.Gly34016Cys(p.G34016C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 493
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178576395:178576395(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.64814A>G
AA Mutation p.Asn21605Ser(p.N21605S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 494
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178583057:178583057(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200155485
CDS Mutation c.60823C>T
AA Mutation p.Arg20275Trp(p.R20275W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 495
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178732913:178732913(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.15312G>T
AA Mutation p.Met5104Ile(p.M5104I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 496
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178795013:178795013(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1154A>G
AA Mutation p.Gln385Arg(p.Q385R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 497
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178736066:178736066(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.13429C>T
AA Mutation p.Pro4477Ser(p.P4477S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 498
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178531487:178531487(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs370137295
CDS Mutation c.100205G>A
AA Mutation p.Arg33402His(p.R33402H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 499
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178786061:178786061(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2157G>C
AA Mutation p.Glu719Asp(p.E719D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 500
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178563198:178563198(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs766522109
CDS Mutation c.78011G>A
AA Mutation p.Arg26004His(p.R26004H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 501
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178602057:178602057(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs771921519
CDS Mutation c.50291G>A
AA Mutation p.Arg16764His(p.R16764H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 502
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178684067:178684067(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.31787A>C
AA Mutation p.Lys10596Thr(p.K10596T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 503
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178774314:178774314(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs764882950
CDS Mutation c.6950G>A
AA Mutation p.Arg2317His(p.R2317H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 504
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178548562:178548562(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.88141C>A
AA Mutation p.Pro29381Thr(p.P29381T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 505
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178584745:178584745(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.59973C>G
AA Mutation p.Phe19991Leu(p.F19991L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 506
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178630249:178630249(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs770389312
CDS Mutation c.39350G>A
AA Mutation p.Arg13117Gln(p.R13117Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 507
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178530624:178530624(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.101068C>T
AA Mutation p.His33690Tyr(p.H33690Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 508
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178568952:178568952(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.72257G>A
AA Mutation p.Gly24086Asp(p.G24086D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 509
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178605275:178605275(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs776785175
CDS Mutation c.48979C>T
AA Mutation p.Arg16327Cys(p.R16327C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 510
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178545931:178545931(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs374445709
CDS Mutation c.90382G>A
AA Mutation p.Val30128Ile(p.V30128I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 511
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178556997:178556997(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.83234G>A
AA Mutation p.Ser27745Asn(p.S27745N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 512
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178591777:178591777(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.55119A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 513
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178597605:178597605(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs777480811
CDS Mutation c.52554C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 514
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178565228:178565228(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.75981C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 515
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178574765:178574765(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.66444C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 516
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178553302:178553302(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.84675A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 517
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178565546:178565546(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs748292845
CDS Mutation c.75663C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 518
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178621295:178621295(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.40500C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 519
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178719186:178719186(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.23253C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 520
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178734744:178734744(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs376217206
CDS Mutation c.14229C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 521
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178795189:178795189(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.978C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 522
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178565228:178565228(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs539234338
CDS Mutation c.75981C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 523
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178547996:178547996(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.88707A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 524
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178780015:178780015(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3714T>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 525
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178733315:178733315(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs397517482
CDS Mutation c.15027C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 526
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178543547:178543547(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.91503T>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 527
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178782837:178782837(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs371447978
CDS Mutation c.3069C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 528
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178533655:178533655(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.98037C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 529
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178694642:178694642(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.30432A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 530
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178720611:178720611(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.22200T>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 531
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178527612:178527612(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.102591C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 532
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178717578:178717578(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs375720439
CDS Mutation c.24345C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 533
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178740780:178740780(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.11502G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 534
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178563101:178563101(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.78108C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 535
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178609413:178609413(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.46974C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 536
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178771320:178771320(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8007T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 537
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178572509:178572509(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.68700C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 538
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178566587:178566587(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs761713195
CDS Mutation c.74622C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 539
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178775774:178775774(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6090C>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 540
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178572200:178572200(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.69009A>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 541
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178784190:178784190(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2655C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 542
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178678147:178678147(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.33021A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 543
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178712152:178712152(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.26727C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 544
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178595652:178595652(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.52779G>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 545
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178564604:178564604(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.76605C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 546
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178734365:178734365(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs762428326
CDS Mutation c.14508C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 547
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178717177:178717177(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.24606C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 548
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178586707:178586707(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs756809018
CDS Mutation c.59271C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 549
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178774292:178774292(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs772147880
CDS Mutation c.6972G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 550
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178775636:178775636(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6228G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 551
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178677694:178677694(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.33267T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 552
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178535461:178535461(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.96231C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 553
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178584349:178584349(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.60279C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 554
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178536271:178536271(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.95553A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 555
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178577726:178577726(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.63777C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 556
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178720991:178720991(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs199907920
CDS Mutation c.22077C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 557
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178576391:178576391(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs566393354
CDS Mutation c.64818G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 558
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178794459:178794459(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1338A>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 559
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178605201:178605201(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.49053C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 560
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178802229:178802229(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs201089861
CDS Mutation c.204C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 561
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178776299:178776299(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5565G>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 562
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178566203:178566203(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.75006A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 563
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178629423:178629423(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.39379A>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 564
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178562219:178562219(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.78990T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 565
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178565255:178565255(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.75954C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 566
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178576659:178576659(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs67041405
CDS Mutation c.64662C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 567
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178589247:178589247(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.57555A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 568
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178592054:178592054(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.54927A>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 569
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178709705:178709705(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.27663T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 570
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178618037:178618037(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.42391C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 571
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178777454:178777454(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4611C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 572
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178782274:178782274(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs141768043
CDS Mutation c.3318C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 573
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178561013:178561013(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.80196G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 574
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178584487:178584487(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.60141G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 575
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178631119:178631119(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.39006C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 576
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178607118:178607118(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.48561T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 577
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178770172:178770172(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8529C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 578
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178609305:178609305(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.47082C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 579
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178547223:178547223(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs771212876
CDS Mutation c.89379C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 580
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178633468:178633468(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs550471556
CDS Mutation c.37968C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 581
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178548194:178548194(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.88509G>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 582
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178549457:178549457(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.87246T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 583
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178533079:178533079(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs772961147
CDS Mutation c.98613G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 584
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178577774:178577774(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.63729T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 585
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178594223:178594223(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs754108889
CDS Mutation c.53247C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 586
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178709585:178709585(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs369319371
CDS Mutation c.27783G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 587
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178731085:178731085(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.16629C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 588
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178777268:178777268(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4695C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 589
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178556858:178556858(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs370287542
CDS Mutation c.83373C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 590
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178689354:178689354(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.30996G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 591
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178732343:178732343(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.15675T>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 592
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178549172:178549172(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.87531C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 593
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178599645:178599645(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs111262307
CDS Mutation c.51333G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 594
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178561397:178561397(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.79812A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 595
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178601413:178601413(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs746159329
CDS Mutation c.50661A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 596
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178612527:178612527(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs376917681
CDS Mutation c.45075T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 597
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178776584:178776584(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5280C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 598
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178712215:178712215(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs750218480
CDS Mutation c.26664G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 599
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178577113:178577113(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs753154331
CDS Mutation c.64299C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 600
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178629307:178629307(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs368005198
CDS Mutation c.39495C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 601
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178533088:178533088(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.98604T>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 602
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178601428:178601428(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.50646A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 603
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178651906:178651906(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.34836A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 604
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178673700:178673700(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.33597G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 605
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178563266:178563266(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.77943A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 606
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178531966:178531966(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.99726C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 607
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178776122:178776122(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs368719553
CDS Mutation c.5742G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 608
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178575872:178575872(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs72646887
CDS Mutation c.65337G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 609
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178710744:178710744(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs777096848
CDS Mutation c.27402C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 610
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178573025:178573025(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.68184A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 611
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178634454:178634454(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.37404T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 612
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178776197:178776197(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5667T>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 613
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178636141:178636141(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.36507G>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 614
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178706477:178706477(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs770084292
CDS Mutation c.28446C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 615
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178551205:178551205(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs367777281
CDS Mutation c.86403A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 616
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178709639:178709639(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs377713076
CDS Mutation c.27729C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 617
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178722933:178722933(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs773546767
CDS Mutation c.21015G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 618
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178625391:178625391(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.39507C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 619
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178784196:178784196(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs775588479
CDS Mutation c.2649C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 620
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178563635:178563635(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs199629314
CDS Mutation c.77574C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 621
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178725603:178725603(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs374731328
CDS Mutation c.19650C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 622
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178539551:178539551(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs766256695
CDS Mutation c.93591G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 623
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178546031:178546031(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs373182578
CDS Mutation c.90282C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 624
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178566344:178566344(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs777989882
CDS Mutation c.74865C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 625
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178771275:178771275(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8052T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 626
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178548443:178548443(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.88260T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 627
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178568426:178568426(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs375764395
CDS Mutation c.72783C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 628
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178740693:178740693(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.11589T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 629
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178728570:178728570(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs369275615
CDS Mutation c.18405C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 630
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178719276:178719276(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs199576800
CDS Mutation c.23163C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 631
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178534513:178534513(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs377354934
CDS Mutation c.97179C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 632
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178554613:178554613(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs749107962
CDS Mutation c.83811C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 633
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178557757:178557757(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.82674C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 634
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178566233:178566233(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.74976C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 635
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178567886:178567886(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.73323C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 636
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178567994:178567994(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.73215T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 637
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178599417:178599417(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.51453A>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 638
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178632256:178632256(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs764977967
CDS Mutation c.38715C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 639
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178632719:178632719(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.38364T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 640
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178635976:178635976(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.36672C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 641
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178681410:178681410(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.32262C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 642
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178712788:178712788(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs762681330
CDS Mutation c.26286C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 643
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178719351:178719351(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs768390615
CDS Mutation c.23088G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 644
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178725423:178725423(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.19830C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 645
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178591236:178591236(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs775192641
CDS Mutation c.55566C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 646
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178728336:178728336(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.18537T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 647
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178776566:178776566(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5298T>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 648
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178593689:178593689(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.53688A>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 649
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178531891:178531891(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.99801T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 650
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178562231:178562231(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.78978T>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 651
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178572707:178572707(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.68502C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 652
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178588122:178588122(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs760168563
CDS Mutation c.58362G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 653
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178704922:178704922(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.28698T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 654
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178720251:178720251(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs754815317
CDS Mutation c.22440C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 655
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178734903:178734903(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.14070C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 656
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178723458:178723458(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs752620885
CDS Mutation c.20691C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 657
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178568864:178568864(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs376372388
CDS Mutation c.72345A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 658
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178680306:178680306(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.32415C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 659
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178604738:178604738(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.49428C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 660
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178563155:178563155(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.78054T>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 661
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178558549:178558549(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs397517736
CDS Mutation c.81987C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 662
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178604270:178604270(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.49494C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 663
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178767855:178767855(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.9375G>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 664
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178679606:178679606(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs754038093
CDS Mutation c.32706G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 665
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178802202:178802202(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.231A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 666
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178545527:178545527(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.90660T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 667
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178582408:178582408(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.61125C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 668
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178630864:178630864(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.39171C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 669
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178704529:178704529(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs543490348
CDS Mutation c.28992C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 670
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178776011:178776011(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs757620804
CDS Mutation c.5853A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 671
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178804625:178804625(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs755302800
CDS Mutation c.18G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 672
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178710768:178710768(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.27378C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 673
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178775096:178775096(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6615G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 674
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178729827:178729827(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.17475C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 675
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178778912:178778912(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4170G>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 676
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178607825:178607825(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs773148195
CDS Mutation c.48039G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 677
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178598974:178598974(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.51813A>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 678
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178530418:178530418(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.101274C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 679
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178741794:178741794(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs770399607
CDS Mutation c.10488C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 680
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178531552:178531552(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs757125254
CDS Mutation c.100140C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 681
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178725955:178725955(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs368422028
CDS Mutation c.19416G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 682
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178533682:178533682(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.98010A>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 683
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178679362:178679362(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.32768delA
AA Mutation p.Lys10923ArgfsTer104(p.K10923Rfs*104)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 684
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178547583:178547583(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.89120delA
AA Mutation p.Lys29707SerfsTer48(p.K29707Sfs*48)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 685
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178775523:178775523(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.6341delA
AA Mutation p.Asn2114MetfsTer25(p.N2114Mfs*25)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 686
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178620027:178620027(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.41467delG
AA Mutation p.Val13823Ter(p.V13823*)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 687
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178607301:178607302(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.48377_48378delCA
AA Mutation p.Pro16126ArgfsTer3(p.P16126Rfs*3)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 688
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178528874:178528874(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.101954delT
AA Mutation p.Leu33985Ter(p.L33985*)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 689
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178711988:178711988(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.26891delA
AA Mutation p.Asn8964ThrfsTer27(p.N8964Tfs*27)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 690
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178573492:178573492(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.67717delG
AA Mutation p.Val22573CysfsTer4(p.V22573Cfs*4)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 691
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178719598:178719598(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.22943delA
AA Mutation p.Asn7648ThrfsTer27(p.N7648Tfs*27)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 692
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178770127:178770127(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.8574delC
AA Mutation p.Ser2859GlnfsTer30(p.S2859Qfs*30)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 693
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178683254:178683254(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.31893delA
AA Mutation p.Val10632TyrfsTer16(p.V10632Yfs*16)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 694
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178575125:178575125(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.66084delA
AA Mutation p.Gly22029GlufsTer22(p.G22029Efs*22)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 695
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178610116:178610116(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.46487delA
AA Mutation p.Asn15496IlefsTer16(p.N15496Ifs*16)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 696
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178671133:178671133(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.34143delA
AA Mutation p.Lys11381AsnfsTer25(p.K11381Nfs*25)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 697
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178775975:178775975(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.5889delA
AA Mutation p.Val1964TrpfsTer14(p.V1964Wfs*14)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 698
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178534363:178534363(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.97329delT
AA Mutation p.Ile32444SerfsTer4(p.I32444Sfs*4)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 699
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178652287:178652287(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.34667delA
AA Mutation p.Lys11556SerfsTer15(p.K11556Sfs*15)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 700
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178612094:178612094(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.45394delG
AA Mutation p.Glu15132SerfsTer22(p.E15132Sfs*22)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 701
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178795216:178795216(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.951delC
AA Mutation p.Ile318SerfsTer42(p.I318Sfs*42)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 702
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178621335:178621335(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.40460delA
AA Mutation p.Asn13487ThrfsTer49(p.N13487Tfs*49)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 703
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178672044:178672044(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.34032delA
AA Mutation p.Val11345PhefsTer4(p.V11345Ffs*4)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 704
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178590687:178590687(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.56115delT
AA Mutation p.Phe18705LeufsTer8(p.F18705Lfs*8)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 705
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178632983:178632983(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.38225delG
AA Mutation p.Gly12742ValfsTer2(p.G12742Vfs*2)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 706
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178584961:178584961(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.59757delC
AA Mutation p.Gly19920AlafsTer12(p.G19920Afs*12)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 707
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178725998:178725998(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.19373delA
AA Mutation p.Asn6458MetfsTer74(p.N6458Mfs*74)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 708
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178576659:178576659(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.64662delC
AA Mutation p.Asp21555IlefsTer6(p.D21555Ifs*6)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 709
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178711205:178711208(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.27077_27080delACAG
AA Mutation p.Asp9026AlafsTer9(p.D9026Afs*9)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 710
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178775147:178775147(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.6564delA
AA Mutation p.Asp2189ThrfsTer17(p.D2189Tfs*17)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 711
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178741508:178741508(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.10774delA
AA Mutation p.Ile3592LeufsTer36(p.I3592Lfs*36)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 712
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178614341:178614341(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.44133delC
AA Mutation p.Gly14712AspfsTer11(p.G14712Dfs*11)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 713
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178722407:178722411(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.21425_21429delTAAGA
AA Mutation p.Leu7142Ter(p.L7142*)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 714
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178740175:178740175(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.12107delC
AA Mutation p.Pro4036GlnfsTer14(p.P4036Qfs*14)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 715
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178537100:178537100(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.95086delG
AA Mutation p.Ala31696LeufsTer12(p.A31696Lfs*12)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 716
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178561331:178561331(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.79878delA
AA Mutation p.Lys26626AsnfsTer34(p.K26626Nfs*34)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 717
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178718093:178718093(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs760266983
CDS Mutation c.23962C>T
AA Mutation p.Arg7988Ter(p.R7988*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 718
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178641253:178641253(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.35698A>T
AA Mutation p.Lys11900Ter(p.K11900*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 719
Mutation Consequence stop_gained;splice_region_variant
Transcription ID ENST00000591111
Start 178717095:178717095(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.24688G>T
AA Mutation p.Glu8230Ter(p.E8230*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 720
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178560574:178560574(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.80635G>T
AA Mutation p.Glu26879Ter(p.E26879*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 721
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178563028:178563028(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.78181C>T
AA Mutation p.Arg26061Ter(p.R26061*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 722
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178564453:178564453(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.76756G>T
AA Mutation p.Glu25586Ter(p.E25586*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 723
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178730991:178730991(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.16723G>T
AA Mutation p.Glu5575Ter(p.E5575*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 724
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178727309:178727309(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs750071765
CDS Mutation c.19105C>T
AA Mutation p.Arg6369Ter(p.R6369*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 725
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178588874:178588874(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.57928G>T
AA Mutation p.Glu19310Ter(p.E19310*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 726
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178682727:178682727(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.32113C>T
AA Mutation p.Arg10705Ter(p.R10705*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 727
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178683259:178683259(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.31888G>T
AA Mutation p.Glu10630Ter(p.E10630*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 728
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178733625:178733625(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.14813T>G
AA Mutation p.Leu4938Ter(p.L4938*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 729
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178789383:178789383(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2053C>T
AA Mutation p.Gln685Ter(p.Q685*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 730
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178605263:178605263(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.48991C>T
AA Mutation p.Arg16331Ter(p.R16331*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 731
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178579705:178579705(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.62569C>T
AA Mutation p.Gln20857Ter(p.Q20857*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 732
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178730339:178730339(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.17110C>T
AA Mutation p.Gln5704Ter(p.Q5704*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 733
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178547737:178547737(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.88966A>T
AA Mutation p.Lys29656Ter(p.K29656*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 734
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178731461:178731461(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.16354G>T
AA Mutation p.Glu5452Ter(p.E5452*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 735
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178800653:178800653(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs150954246
CDS Mutation c.325C>T
AA Mutation p.Arg109Ter(p.R109*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 736
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178658771:178658771(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.34288G>T
AA Mutation p.Glu11430Ter(p.E11430*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 737
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178710785:178710785(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.27361C>T
AA Mutation p.Arg9121Ter(p.R9121*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 738
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178560865:178560865(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs769664554
CDS Mutation c.80344C>T
AA Mutation p.Arg26782Ter(p.R26782*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 739
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178607165:178607165(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.48514C>T
AA Mutation p.Gln16172Ter(p.Q16172*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 740
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178572286:178572286(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs794729284
CDS Mutation c.68923C>T
AA Mutation p.Arg22975Ter(p.R22975*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 741
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178532844:178532844(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.98848C>T
AA Mutation p.Arg32950Ter(p.R32950*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 742
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178587744:178587744(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.58642G>T
AA Mutation p.Gly19548Ter(p.G19548*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 743
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178601739:178601739(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.50428C>T
AA Mutation p.Arg16810Ter(p.R16810*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 744
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178542686:178542686(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.92245G>T
AA Mutation p.Glu30749Ter(p.E30749*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 745
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178590794:178590794(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.56008C>T
AA Mutation p.Arg18670Ter(p.R18670*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 746
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178604035:178604035(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs775367836
CDS Mutation c.49729C>T
AA Mutation p.Arg16577Ter(p.R16577*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 747
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178740857:178740857(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11425G>T
AA Mutation p.Glu3809Ter(p.E3809*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 748
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178725599:178725599(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.19654G>T
AA Mutation p.Glu6552Ter(p.E6552*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 749
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178740002:178740002(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.12280C>T
AA Mutation p.Gln4094Ter(p.Q4094*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 750
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178528797:178528797(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs565675340
CDS Mutation c.102031C>T
AA Mutation p.Arg34011Ter(p.R34011*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 751
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178630923:178630923(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs776970935
CDS Mutation c.39112C>T
AA Mutation p.Arg13038Ter(p.R13038*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 752
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178555021:178555021(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.83515G>T
AA Mutation p.Glu27839Ter(p.E27839*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 753
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178559604:178559604(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs752378132
CDS Mutation c.81605T>G
AA Mutation p.Leu27202Ter(p.L27202*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 754
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178571600:178571600(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.69609C>A
AA Mutation p.Tyr23203Ter(p.Y23203*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 755
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178589281:178589281(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.57521C>A
AA Mutation p.Ser19174Ter(p.S19174*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 756
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178674379:178674379(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.33521C>A
AA Mutation p.Ser11174Ter(p.S11174*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 757
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178790004:178790004(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1912G>T
AA Mutation p.Glu638Ter(p.E638*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 758
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178790052:178790052(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1864G>T
AA Mutation p.Glu622Ter(p.E622*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 759
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178527023:178527023(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs770506970
CDS Mutation c.103042C>T
AA Mutation p.Arg34348Ter(p.R34348*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 760
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178565095:178565095(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.76114C>T
AA Mutation p.Arg25372Ter(p.R25372*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 761
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178609529:178609529(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.46858C>T
AA Mutation p.Arg15620Ter(p.R15620*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 762
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178617393:178617393(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs775186117
CDS Mutation c.42769C>T
AA Mutation p.Arg14257Ter(p.R14257*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 763
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178621318:178621318(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.40477G>T
AA Mutation p.Gly13493Ter(p.G13493*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 764
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178632308:178632308(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.38663G>A
AA Mutation p.Trp12888Ter(p.W12888*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 765
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178729438:178729438(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.17767C>T
AA Mutation p.Arg5923Ter(p.R5923*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 766
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178735973:178735973(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.13522G>T
AA Mutation p.Glu4508Ter(p.E4508*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 767
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178531308:178531308(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.100384G>T
AA Mutation p.Glu33462Ter(p.E33462*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 768
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178563106:178563106(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.78103G>T
AA Mutation p.Glu26035Ter(p.E26035*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 769
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178781187:178781187(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3457G>T
AA Mutation p.Glu1153Ter(p.E1153*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 770
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178793451:178793451(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1489G>T
AA Mutation p.Glu497Ter(p.E497*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 771
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178782956:178782956(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2950G>T
AA Mutation p.Glu984Ter(p.E984*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 772
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178730267:178730268(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.17181_17182insA
AA Mutation p.Trp5728MetfsTer3(p.W5728Mfs*3)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 773
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178572780:178572781(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.68428_68429insATTT
AA Mutation p.Pro22810HisfsTer10(p.P22810Hfs*10)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 774
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178617351:178617352(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.42810_42811insC
AA Mutation p.Lys14271GlnfsTer5(p.K14271Qfs*5)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 775
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178777964:178777965(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.4218_4219dupTC
AA Mutation p.Pro1407LeufsTer5(p.P1407Lfs*5)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 776
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178685288:178685289(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.31483dupA
AA Mutation p.Ile10495AsnfsTer4(p.I10495Nfs*4)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 777
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178776739:178776740(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.5124dupA
AA Mutation p.Leu1709ThrfsTer7(p.L1709Tfs*7)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 778
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178722523:178722524(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.21312dupT
AA Mutation p.Ala7105CysfsTer8(p.A7105Cfs*8)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 779
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178583105:178583106(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.60774dupA
AA Mutation p.Asp20259ArgfsTer40(p.D20259Rfs*40)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 780
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178739821:178739822(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.12460dupA
AA Mutation p.Met4154AsnfsTer4(p.M4154Nfs*4)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 781
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178566216:178566217(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.74992dupA
AA Mutation p.Ile24998AsnfsTer2(p.I24998Nfs*2)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 782
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178633489:178633490(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.37946dupA
AA Mutation p.Ala12650GlyfsTer4(p.A12650Gfs*4)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 783
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178678146:178678147(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.33021dupA
AA Mutation p.Val11008SerfsTer13(p.V11008Sfs*13)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 784
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178552035:178552036(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.85941dupT
AA Mutation p.Leu28648SerfsTer6(p.L28648Sfs*6)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 785
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178532889:178532890(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.98802_98803insCTGTATT
AA Mutation p.Asp32935LeufsTer3(p.D32935Lfs*3)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 786
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178558107:178558108(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.82323dupT
AA Mutation p.Val27442CysfsTer4(p.V27442Cfs*4)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 787
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178582357:178582358(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.61175_61176insTAATTTTAAA
AA Mutation p.Glu20392AspfsTer6(p.E20392Dfs*6)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 788
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178582359:178582360(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.61173_61174insAAAA
AA Mutation p.Glu20392LysfsTer4(p.E20392Kfs*4)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 789
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178732315:178732316(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.15702_15703insCATATAT
AA Mutation p.Ser5235HisfsTer25(p.S5235Hfs*25)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 790
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178733381:178733382(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.14960_14961insCATCATTTTC
AA Mutation p.Lys4988IlefsTer4(p.K4988Ifs*4)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 791
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178739937:178739938(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.12344_12345insTTCCTCATATATAATAG
AA Mutation p.Thr4116SerfsTer25(p.T4116Sfs*25)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 792
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178792139:178792140(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.1594_1595insATATACAA
AA Mutation p.Ala532AspfsTer22(p.A532Dfs*22)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 793
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178709695:178709696(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.27672_27673insTGCTCATGGATAT
AA Mutation p.Ile9225CysfsTer34(p.I9225Cfs*34)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 794
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178709697:178709698(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.27670_27671insGTCAAGATATCATAAGA
AA Mutation p.Glu9224GlyfsTer8(p.E9224Gfs*8)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 795
Mutation Consequence splice_donor_variant
Transcription ID ENST00000591111
Start 178537340:178537340(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.94942+2T>C
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 796
Mutation Consequence splice_donor_variant
Transcription ID ENST00000591111
Start 178588536:178588536(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.58264+2T>C
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 797
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000591111
Start 178576417:178576417(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs794729282
CDS Mutation c.64793-1G>T
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 798
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000591111
Start 178672482:178672482(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.33734-1G>T
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 799
Mutation Consequence splice_donor_variant
Transcription ID ENST00000591111
Start 178593171:178593171(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs779249450
CDS Mutation c.54112+2T>C
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 800
Mutation Consequence splice_donor_variant
Transcription ID ENST00000591111
Start 178622669:178622669(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.39990+1G>T
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 801
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000591111
Start 178583907:178583907(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.60353-1G>C
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 802
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000591111
Start 178613938:178613938(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.44423-1G>T
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 803
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000591111
Start 178576832:178576832(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.64490-1G>T
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 804
Mutation Consequence splice_donor_variant
Transcription ID ENST00000591111
Start 178610089:178610089(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs761807131
CDS Mutation c.46513+1G>A
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 805
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000591111
Start 178635716:178635716(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.36686-1G>T
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 806
Mutation Consequence splice_donor_variant
Transcription ID ENST00000591111
Start 178728109:178728109(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.18763+1G>T
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 807
Mutation Consequence splice_donor_variant;coding_sequence_variant;intron_variant
Transcription ID ENST00000591111
Start 178614457:178614480(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.44111_44125+9delAAGTGAACGTCTTAGGTAAGGAAG
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 808
Mutation Consequence splice_donor_variant
Transcription ID ENST00000591111
Start 178630240:178630240(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs771562210
CDS Mutation c.39358+1G>A
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 809
Mutation Consequence inframe_deletion
Transcription ID ENST00000591111
Start 178547099:178547101(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.89501_89503delAAG
AA Mutation p.Glu29834del(p.E29834del)
Mutation Classification In_Frame_Del
Feature Type Transcript
Mutation ID 810
Mutation Consequence inframe_deletion
Transcription ID ENST00000591111
Start 178617875:178617877(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.42551_42553delAAG
AA Mutation p.Glu14184del(p.E14184del)
Mutation Classification In_Frame_Del
Feature Type Transcript
Mutation ID 811
Mutation Consequence inframe_insertion
Transcription ID ENST00000591111
Start 178558109:178558110(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.82321_82322insTTAATGAAAGCTTTG
AA Mutation p.Asp27440_Gly27441insValAsnGluSerPhe(p.D27440_G27441insVNESF)
Mutation Classification In_Frame_Ins
Feature Type Transcript
Mutation ID 812
Mutation Consequence inframe_insertion
Transcription ID ENST00000591111
Start 178572614:178572615(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.68594_68595insTCTACCTTC
AA Mutation p.Gly22865_Ser22866insLeuProSer(p.G22865_S22866insLPS)
Mutation Classification In_Frame_Ins
Feature Type Transcript
Mutation ID 813
Mutation Consequence protein_altering_variant
Transcription ID ENST00000591111
Start 178621355:178621356(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.40439_40440insTAACGTCAT
AA Mutation p.Glu13480delinsAspAsnValIle(p.E13480delinsDNVI)
Mutation Classification In_Frame_Ins
Feature Type Transcript
Mutation ID 814
Mutation Consequence protein_altering_variant
Transcription ID ENST00000591111
Start 178709745:178709746(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.27622_27623insGACACT
AA Mutation p.Val9208delinsGlyHisPhe(p.V9208delinsGHF)
Mutation Classification In_Frame_Ins
Feature Type Transcript
Mutation ID 815
Mutation Consequence protein_altering_variant
Transcription ID ENST00000591111
Start 178777269:178777270(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.4693_4694insAGGGAATAA
AA Mutation p.Val1565delinsGluGlyIleIle(p.V1565delinsEGII)
Mutation Classification In_Frame_Ins
Feature Type Transcript

Rectum Cancer: Gene >> TTN

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178714551:178714551(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.25272G>T
AA Mutation p.Lys8424Asn(p.K8424N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178567854:178567854(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.73355G>A
AA Mutation p.Gly24452Glu(p.G24452E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178727257:178727257(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs546821182
CDS Mutation c.19157G>A
AA Mutation p.Arg6386Gln(p.R6386Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178547089:178547089(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.89513A>G
AA Mutation p.Tyr29838Cys(p.Y29838C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178740248:178740248(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12034A>G
AA Mutation p.Arg4012Gly(p.R4012G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178559881:178559881(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.81328G>A
AA Mutation p.Glu27110Lys(p.E27110K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178563678:178563678(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.77531C>A
AA Mutation p.Ser25844Tyr(p.S25844Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178564605:178564605(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs199726308
CDS Mutation c.76604G>A
AA Mutation p.Arg25535His(p.R25535H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178564795:178564795(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.76414G>A
AA Mutation p.Glu25472Lys(p.E25472K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178571292:178571292(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs765512476
CDS Mutation c.69917G>A
AA Mutation p.Arg23306His(p.R23306H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178576179:178576179(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.65030C>T
AA Mutation p.Ala21677Val(p.A21677V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178577669:178577669(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.63834G>T
AA Mutation p.Lys21278Asn(p.K21278N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178597750:178597750(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs375808207
CDS Mutation c.52409G>A
AA Mutation p.Arg17470Gln(p.R17470Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178599379:178599379(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.51491C>A
AA Mutation p.Ser17164Tyr(p.S17164Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178602378:178602378(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.50101C>T
AA Mutation p.Leu16701Phe(p.L16701F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178608734:178608734(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.47354G>T
AA Mutation p.Arg15785Ile(p.R15785I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178672228:178672228(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs59887778
CDS Mutation c.33848G>A
AA Mutation p.Arg11283His(p.R11283H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178609762:178609762(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs780490612
CDS Mutation c.46738C>T
AA Mutation p.Arg15580Cys(p.R15580C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178614217:178614217(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.44257G>C
AA Mutation p.Asp14753His(p.D14753H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178719448:178719448(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs772430122
CDS Mutation c.22991G>A
AA Mutation p.Arg7664Gln(p.R7664Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178533649:178533649(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.98043T>A
AA Mutation p.Ser32681Arg(p.S32681R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178588919:178588919(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.57883T>G
AA Mutation p.Phe19295Val(p.F19295V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178712541:178712541(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.26430A>T
AA Mutation p.Lys8810Asn(p.K8810N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178531551:178531551(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs727504977
CDS Mutation c.100141G>A
AA Mutation p.Glu33381Lys(p.E33381K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178738345:178738345(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.13157A>T
AA Mutation p.Lys4386Met(p.K4386M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178607408:178607408(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.48357A>C
AA Mutation p.Glu16119Asp(p.E16119D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178555132:178555132(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.83404C>T
AA Mutation p.Pro27802Ser(p.P27802S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178731770:178731770(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.16154C>A
AA Mutation p.Ala5385Glu(p.A5385E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178541398:178541398(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs775600228
CDS Mutation c.92756G>A
AA Mutation p.Arg30919His(p.R30919H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178672693:178672693(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.33675A>T
AA Mutation p.Lys11225Asn(p.K11225N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178739461:178739461(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12821T>C
AA Mutation p.Val4274Ala(p.V4274A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178551069:178551069(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.86539C>A
AA Mutation p.Pro28847Thr(p.P28847T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178720389:178720389(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.22422C>G
AA Mutation p.Phe7474Leu(p.F7474L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 34
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178644607:178644607(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.35495A>C
AA Mutation p.Lys11832Thr(p.K11832T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 35
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178739360:178739360(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12922C>A
AA Mutation p.Leu4308Ile(p.L4308I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 36
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178598873:178598873(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.51914T>C
AA Mutation p.Val17305Ala(p.V17305A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 37
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178568526:178568526(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.72683G>C
AA Mutation p.Gly24228Ala(p.G24228A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 38
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178579265:178579265(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.62842G>A
AA Mutation p.Asp20948Asn(p.D20948N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 39
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178771216:178771216(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8111T>G
AA Mutation p.Val2704Gly(p.V2704G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 40
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178569813:178569813(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.71396A>G
AA Mutation p.Tyr23799Cys(p.Y23799C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 41
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178591447:178591447(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.55355G>T
AA Mutation p.Gly18452Val(p.G18452V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 42
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178617474:178617474(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.42688C>A
AA Mutation p.Gln14230Lys(p.Q14230K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 43
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178564276:178564276(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs372784067
CDS Mutation c.76933G>A
AA Mutation p.Val25645Ile(p.V25645I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 44
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178578952:178578952(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs758700425
CDS Mutation c.63155C>T
AA Mutation p.Thr21052Met(p.T21052M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 45
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178579718:178579718(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.62556A>C
AA Mutation p.Glu20852Asp(p.E20852D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 46
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178587659:178587659(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.58727T>C
AA Mutation p.Val19576Ala(p.V19576A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 47
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178629357:178629357(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs762712953
CDS Mutation c.39445G>A
AA Mutation p.Glu13149Lys(p.E13149K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 48
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178572973:178572973(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.68236A>T
AA Mutation p.Thr22746Ser(p.T22746S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 49
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178611636:178611636(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.45670G>T
AA Mutation p.Gly15224Trp(p.G15224W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 50
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178586577:178586577(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.59401G>C
AA Mutation p.Ala19801Pro(p.A19801P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 51
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178620792:178620792(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.40895A>G
AA Mutation p.Asp13632Gly(p.D13632G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 52
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178621501:178621501(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs781435431
CDS Mutation c.40400G>A
AA Mutation p.Arg13467Gln(p.R13467Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 53
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178566177:178566177(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.75032A>G
AA Mutation p.Asn25011Ser(p.N25011S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 54
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178784159:178784159(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs376768790
CDS Mutation c.2686G>A
AA Mutation p.Val896Ile(p.V896I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 55
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178557798:178557798(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.82633A>T
AA Mutation p.Thr27545Ser(p.T27545S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 56
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178577246:178577246(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.64166T>A
AA Mutation p.Val21389Glu(p.V21389E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 57
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178711309:178711309(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.26976T>G
AA Mutation p.Asp8992Glu(p.D8992E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 58
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178719604:178719604(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.22937T>C
AA Mutation p.Val7646Ala(p.V7646A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 59
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178729369:178729369(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.17836C>G
AA Mutation p.Pro5946Ala(p.P5946A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 60
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178802246:178802246(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs764892312
CDS Mutation c.187G>A
AA Mutation p.Ala63Thr(p.A63T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 61
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178727841:178727841(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.18786A>T
AA Mutation p.Lys6262Asn(p.K6262N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 62
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178632227:178632227(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.38744A>T
AA Mutation p.Lys12915Ile(p.K12915I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 63
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178651489:178651489(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs780550944
CDS Mutation c.34990G>A
AA Mutation p.Val11664Met(p.V11664M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 64
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178739893:178739893(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs777547090
CDS Mutation c.12389C>T
AA Mutation p.Ser4130Leu(p.S4130L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 65
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178720140:178720140(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.22551A>C
AA Mutation p.Glu7517Asp(p.E7517D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 66
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178725882:178725882(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.19489T>G
AA Mutation p.Phe6497Val(p.F6497V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 67
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178621516:178621516(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.40385G>T
AA Mutation p.Arg13462Leu(p.R13462L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 68
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178598874:178598874(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.51913G>C
AA Mutation p.Val17305Leu(p.V17305L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 69
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178735687:178735687(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs371455094
CDS Mutation c.13808C>T
AA Mutation p.Thr4603Met(p.T4603M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 70
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178573932:178573932(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.67277G>T
AA Mutation p.Gly22426Val(p.G22426V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 71
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178617347:178617347(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.42815T>A
AA Mutation p.Leu14272His(p.L14272H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 72
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178717280:178717280(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.24503T>A
AA Mutation p.Ile8168Asn(p.I8168N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 73
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178571098:178571098(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs368914555
CDS Mutation c.70111C>T
AA Mutation p.Arg23371Trp(p.R23371W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 74
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178715007:178715007(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs544958705
CDS Mutation c.25228G>A
AA Mutation p.Val8410Ile(p.V8410I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 75
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178565197:178565197(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.76012C>T
AA Mutation p.Pro25338Ser(p.P25338S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 76
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178575804:178575804(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs762529671
CDS Mutation c.65405G>A
AA Mutation p.Arg21802Gln(p.R21802Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 77
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178608393:178608393(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.47567A>G
AA Mutation p.Asn15856Ser(p.N15856S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 78
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178611791:178611791(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.45595C>G
AA Mutation p.Pro15199Ala(p.P15199A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 79
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178741258:178741258(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs72648919
CDS Mutation c.11024G>T
AA Mutation p.Gly3675Val(p.G3675V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 80
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178534079:178534079(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.97613A>G
AA Mutation p.Asn32538Ser(p.N32538S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 81
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178547149:178547149(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.89453A>G
AA Mutation p.Asn29818Ser(p.N29818S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 82
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178564655:178564655(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.76554C>A
AA Mutation p.Ser25518Arg(p.S25518R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 83
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178569519:178569519(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.71690C>T
AA Mutation p.Pro23897Leu(p.P23897L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 84
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178571712:178571712(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.69497A>G
AA Mutation p.Asp23166Gly(p.D23166G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 85
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178589973:178589973(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.56829G>T
AA Mutation p.Glu18943Asp(p.E18943D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 86
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178593598:178593598(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.53779T>C
AA Mutation p.Ser17927Pro(p.S17927P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 87
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178632239:178632239(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.38732C>T
AA Mutation p.Ser12911Leu(p.S12911L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 88
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178727662:178727662(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.18965C>A
AA Mutation p.Ser6322Tyr(p.S6322Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 89
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178729044:178729044(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.18043C>A
AA Mutation p.Leu6015Ile(p.L6015I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 90
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178732191:178732191(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.15827C>A
AA Mutation p.Ser5276Tyr(p.S5276Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 91
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178739974:178739974(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12308G>T
AA Mutation p.Arg4103Ile(p.R4103I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 92
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178570251:178570251(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.70958A>C
AA Mutation p.Glu23653Ala(p.E23653A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 93
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178759120:178759120(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10167C>A
AA Mutation p.Phe3389Leu(p.F3389L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 94
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178551189:178551189(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs756030714
CDS Mutation c.86419C>T
AA Mutation p.Arg28807Cys(p.R28807C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 95
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178562866:178562866(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.78343A>T
AA Mutation p.Thr26115Ser(p.T26115S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 96
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178570236:178570236(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.70973A>G
AA Mutation p.Lys23658Arg(p.K23658R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 97
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178782215:178782215(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3377A>G
AA Mutation p.Tyr1126Cys(p.Y1126C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 98
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178573632:178573632(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.67577G>T
AA Mutation p.Arg22526Ile(p.R22526I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 99
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178565495:178565495(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.75714G>C
AA Mutation p.Gln25238His(p.Q25238H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 100
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178630289:178630289(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.39310G>A
AA Mutation p.Asp13104Asn(p.D13104N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 101
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178635627:178635627(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.36774A>C
AA Mutation p.Lys12258Asn(p.K12258N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 102
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178605287:178605287(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.48967A>T
AA Mutation p.Thr16323Ser(p.T16323S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 103
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178533252:178533252(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs72629785
CDS Mutation c.98440C>T
AA Mutation p.Arg32814Cys(p.R32814C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 104
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178539213:178539213(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs267599023
CDS Mutation c.93799G>A
AA Mutation p.Asp31267Asn(p.D31267N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 105
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178542276:178542276(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs727503539
CDS Mutation c.92557C>T
AA Mutation p.Arg30853Cys(p.R30853C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 106
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178544213:178544213(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs191786700
CDS Mutation c.91093G>A
AA Mutation p.Val30365Met(p.V30365M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 107
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178548795:178548795(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs755972883
CDS Mutation c.87908G>A
AA Mutation p.Arg29303His(p.R29303H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 108
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178552365:178552365(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs769360937
CDS Mutation c.85612C>T
AA Mutation p.Arg28538Cys(p.R28538C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 109
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178553190:178553190(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.84787C>T
AA Mutation p.Arg28263Cys(p.R28263C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 110
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178554612:178554612(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.83812G>A
AA Mutation p.Val27938Ile(p.V27938I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 111
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178558046:178558046(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.82385A>C
AA Mutation p.Asn27462Thr(p.N27462T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 112
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178560154:178560154(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.81055A>T
AA Mutation p.Ile27019Phe(p.I27019F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 113
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178560503:178560503(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.80706G>T
AA Mutation p.Lys26902Asn(p.K26902N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 114
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178561107:178561107(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.80102C>T
AA Mutation p.Ser26701Phe(p.S26701F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 115
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178562070:178562070(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.79139C>A
AA Mutation p.Ser26380Tyr(p.S26380Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 116
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178564249:178564249(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.76960C>A
AA Mutation p.Leu25654Ile(p.L25654I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 117
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178566578:178566578(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.74631G>T
AA Mutation p.Glu24877Asp(p.E24877D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 118
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178566796:178566796(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.74413C>A
AA Mutation p.Leu24805Ile(p.L24805I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 119
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178567174:178567174(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.74035T>C
AA Mutation p.Ser24679Pro(p.S24679P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 120
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178567285:178567285(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.73924G>T
AA Mutation p.Val24642Leu(p.V24642L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 121
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178568760:178568760(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.72449C>T
AA Mutation p.Ala24150Val(p.A24150V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 122
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178580342:178580342(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.62114C>T
AA Mutation p.Thr20705Ile(p.T20705I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 123
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178589848:178589848(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs745731267
CDS Mutation c.56954G>A
AA Mutation p.Arg18985Gln(p.R18985Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 124
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178590592:178590592(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.56210C>T
AA Mutation p.Pro18737Leu(p.P18737L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 125
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178592510:178592510(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.54572G>A
AA Mutation p.Arg18191Lys(p.R18191K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 126
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178593817:178593817(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.53560G>T
AA Mutation p.Asp17854Tyr(p.D17854Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 127
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178598912:178598912(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.51875G>T
AA Mutation p.Arg17292Ile(p.R17292I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 128
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178607082:178607082(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs769761717
CDS Mutation c.48597G>T
AA Mutation p.Lys16199Asn(p.K16199N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 129
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178607266:178607266(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.48413A>C
AA Mutation p.Lys16138Thr(p.K16138T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 130
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178609549:178609549(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.46838G>T
AA Mutation p.Arg15613Ile(p.R15613I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 131
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178612136:178612136(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.45352G>A
AA Mutation p.Ala15118Thr(p.A15118T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 132
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178614154:178614154(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.44320T>A
AA Mutation p.Leu14774Ile(p.L14774I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 133
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178617154:178617154(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.42918A>T
AA Mutation p.Glu14306Asp(p.E14306D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 134
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178651503:178651503(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.34976A>C
AA Mutation p.Lys11659Thr(p.K11659T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 135
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178671154:178671154(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.34122G>T
AA Mutation p.Glu11374Asp(p.E11374D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 136
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178685547:178685547(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.31412C>A
AA Mutation p.Ser10471Tyr(p.S10471Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 137
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178706610:178706610(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.28313A>C
AA Mutation p.Lys9438Thr(p.K9438T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 138
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178706906:178706906(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.28139G>T
AA Mutation p.Arg9380Ile(p.R9380I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 139
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178719733:178719733(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.22808C>T
AA Mutation p.Ala7603Val(p.A7603V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 140
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178723303:178723303(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.20753G>T
AA Mutation p.Arg6918Ile(p.R6918I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 141
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178728598:178728598(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.18377G>T
AA Mutation p.Arg6126Ile(p.R6126I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 142
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178732511:178732511(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs769165258
CDS Mutation c.15599C>T
AA Mutation p.Ser5200Leu(p.S5200L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 143
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178732605:178732605(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.15505G>A
AA Mutation p.Gly5169Ser(p.G5169S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 144
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178738207:178738207(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs763823518
CDS Mutation c.13295G>A
AA Mutation p.Arg4432Gln(p.R4432Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 145
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178739752:178739752(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12530G>T
AA Mutation p.Arg4177Ile(p.R4177I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 146
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178767918:178767918(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.9312G>T
AA Mutation p.Lys3104Asn(p.K3104N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 147
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178771330:178771330(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7997G>A
AA Mutation p.Arg2666Lys(p.R2666K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 148
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178776498:178776498(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5366C>A
AA Mutation p.Ser1789Tyr(p.S1789Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 149
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178777712:178777712(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4472T>G
AA Mutation p.Phe1491Cys(p.F1491C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 150
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178779285:178779285(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3907C>A
AA Mutation p.Leu1303Ile(p.L1303I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 151
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178780130:178780130(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3599C>A
AA Mutation p.Pro1200His(p.P1200H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 152
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178688139:178688139(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.31332G>T
AA Mutation p.Glu10444Asp(p.E10444D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 153
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178776749:178776749(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs375828531
CDS Mutation c.5115C>G
AA Mutation p.Phe1705Leu(p.F1705L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 154
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178717603:178717603(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.24320A>G
AA Mutation p.Gln8107Arg(p.Q8107R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 155
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178531502:178531502(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.100190C>T
AA Mutation p.Thr33397Ile(p.T33397I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 156
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178734767:178734767(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.14206T>G
AA Mutation p.Ser4736Ala(p.S4736A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 157
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178545513:178545513(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.90674C>G
AA Mutation p.Thr30225Ser(p.T30225S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 158
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178545885:178545885(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.90428C>T
AA Mutation p.Ala30143Val(p.A30143V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 159
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178550131:178550131(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.86784G>C
AA Mutation p.Lys28928Asn(p.K28928N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 160
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178554633:178554633(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.83791G>A
AA Mutation p.Glu27931Lys(p.E27931K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 161
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178782866:178782866(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3040A>C
AA Mutation p.Thr1014Pro(p.T1014P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 162
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178545676:178545676(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs754416007
CDS Mutation c.90511G>A
AA Mutation p.Gly30171Ser(p.G30171S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 163
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178607907:178607907(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.47957G>T
AA Mutation p.Arg15986Leu(p.R15986L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 164
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178706695:178706695(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.28228C>T
AA Mutation p.Pro9410Ser(p.P9410S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 165
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178608627:178608627(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.47461C>G
AA Mutation p.Leu15821Val(p.L15821V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 166
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178548823:178548823(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.87880C>A
AA Mutation p.His29294Asn(p.H29294N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 167
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178559368:178559368(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.81841G>A
AA Mutation p.Glu27281Lys(p.E27281K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 168
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178560060:178560060(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.81149A>C
AA Mutation p.Lys27050Thr(p.K27050T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 169
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178560734:178560734(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.80475G>T
AA Mutation p.Glu26825Asp(p.E26825D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 170
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178563347:178563347(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.77862T>G
AA Mutation p.Ile25954Met(p.I25954M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 171
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178564572:178564572(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.76637T>C
AA Mutation p.Val25546Ala(p.V25546A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 172
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178565191:178565191(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs779878975
CDS Mutation c.76018C>T
AA Mutation p.Arg25340Trp(p.R25340W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 173
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178570727:178570727(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.70482T>G
AA Mutation p.Ile23494Met(p.I23494M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 174
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178589762:178589762(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs776314797
CDS Mutation c.57040G>A
AA Mutation p.Glu19014Lys(p.E19014K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 175
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178591812:178591812(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.55084C>T
AA Mutation p.Arg18362Cys(p.R18362C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 176
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178592820:178592820(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.54376G>T
AA Mutation p.Asp18126Tyr(p.D18126Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 177
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178593045:178593045(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs771977738
CDS Mutation c.54151A>G
AA Mutation p.Thr18051Ala(p.T18051A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 178
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000591111
Start 178617781:178617781(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.42647T>C
AA Mutation p.Ile14216Thr(p.I14216T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 179
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178636097:178636097(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs727504774
CDS Mutation c.36551G>A
AA Mutation p.Arg12184Gln(p.R12184Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 180
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178712550:178712550(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.26421G>T
AA Mutation p.Glu8807Asp(p.E8807D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 181
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178714417:178714417(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.25406C>A
AA Mutation p.Ser8469Tyr(p.S8469Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 182
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178720054:178720054(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.22637C>A
AA Mutation p.Ser7546Tyr(p.S7546Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 183
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178732087:178732087(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.15931A>C
AA Mutation p.Ser5311Arg(p.S5311R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 184
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178736027:178736027(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.13468T>G
AA Mutation p.Phe4490Val(p.F4490V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 185
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178738233:178738233(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.13269T>G
AA Mutation p.Ile4423Met(p.I4423M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 186
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178779028:178779028(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4054C>T
AA Mutation p.Pro1352Ser(p.P1352S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 187
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178784244:178784244(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2601T>G
AA Mutation p.Ser867Arg(p.S867R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 188
Mutation Consequence missense_variant
Transcription ID ENST00000591111
Start 178607255:178607255(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.48424C>G
AA Mutation p.Leu16142Val(p.L16142V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 189
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178782313:178782313(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3279G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 190
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178547091:178547091(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.89511A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 191
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178532929:178532929(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs777864853
CDS Mutation c.98763C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 192
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178538676:178538676(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.94230A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 193
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178551010:178551010(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs770698629
CDS Mutation c.86598G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 194
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178689877:178689877(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.30831A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 195
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178712968:178712968(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.26106A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 196
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178717719:178717719(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs772383867
CDS Mutation c.24204C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 197
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178725925:178725925(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.19446G>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 198
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178774244:178774244(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs587780986
CDS Mutation c.7020C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 199
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178764801:178764801(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9714G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 200
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178563593:178563593(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs775673876
CDS Mutation c.77616C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 201
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178768770:178768770(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9066A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 202
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178598767:178598767(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs370998052
CDS Mutation c.52020G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 203
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178575005:178575005(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.66204G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 204
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178557774:178557774(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.82657A>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 205
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178560065:178560065(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.81144A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 206
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178577290:178577290(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs759122929
CDS Mutation c.64122G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 207
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178568591:178568591(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs556181023
CDS Mutation c.72618C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 208
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178601074:178601074(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.50907T>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 209
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178604762:178604762(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.49404G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 210
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178729707:178729707(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.17595T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 211
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178578627:178578627(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.63390T>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 212
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178610193:178610193(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.46410C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 213
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178739382:178739382(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12900T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 214
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178594438:178594438(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.53133T>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 215
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178731931:178731931(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.15993C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 216
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178632605:178632605(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs751420847
CDS Mutation c.38478G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 217
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178804616:178804616(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs760305568
CDS Mutation c.27G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 218
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178582339:178582339(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs369516025
CDS Mutation c.61194C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 219
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178587332:178587332(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200463088
CDS Mutation c.58956C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 220
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178729550:178729550(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.17655C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 221
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178539719:178539719(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.93423C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 222
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178539863:178539863(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.93279A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 223
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178565627:178565627(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.75582C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 224
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178584364:178584364(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs397517660
CDS Mutation c.60264G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 225
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178593028:178593028(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs756192412
CDS Mutation c.54168C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 226
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178651700:178651700(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.34908C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 227
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178682746:178682746(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs369046627
CDS Mutation c.32094C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 228
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178710777:178710777(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs375083775
CDS Mutation c.27369C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 229
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178712436:178712436(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.26535G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 230
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178720590:178720590(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.22221A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 231
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178731558:178731558(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.16257C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 232
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178731826:178731826(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.16098T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 233
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178777013:178777013(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs756286153
CDS Mutation c.4851C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 234
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178800660:178800660(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.318C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 235
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178710840:178710840(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.27306C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 236
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178770461:178770461(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8331T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 237
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178727118:178727118(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.19296A>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 238
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178588029:178588029(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.58455A>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 239
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178529062:178529062(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.101766C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 240
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178557500:178557500(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.82839C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 241
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178569146:178569146(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs751678747
CDS Mutation c.72063C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 242
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178632238:178632238(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs376851369
CDS Mutation c.38733G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 243
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178633932:178633932(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.37644C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 244
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178692074:178692074(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.30753G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 245
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178723545:178723545(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.20604C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 246
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178728765:178728765(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.18210C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 247
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178731082:178731082(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.16632A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 248
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178734744:178734744(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs376217206
CDS Mutation c.14229C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 249
Mutation Consequence synonymous_variant
Transcription ID ENST00000591111
Start 178733339:178733339(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.15003C>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 250
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178735657:178735657(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.13838delC
AA Mutation p.Pro4613GlnfsTer13(p.P4613Qfs*13)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 251
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178672044:178672044(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.34032delA
AA Mutation p.Val11345PhefsTer4(p.V11345Ffs*4)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 252
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178605552:178605552(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs753333359
CDS Mutation c.48820C>T
AA Mutation p.Arg16274Ter(p.R16274*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 253
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178773253:178773253(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7711G>T
AA Mutation p.Glu2571Ter(p.E2571*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 254
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178569643:178569643(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.71566G>T
AA Mutation p.Gly23856Ter(p.G23856*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 255
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178570663:178570663(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.70546C>T
AA Mutation p.Arg23516Ter(p.R23516*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 256
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178621315:178621315(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.40480G>T
AA Mutation p.Glu13494Ter(p.E13494*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 257
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178621502:178621502(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.40399C>T
AA Mutation p.Arg13467Ter(p.R13467*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 258
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178709806:178709806(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.27562G>T
AA Mutation p.Glu9188Ter(p.E9188*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 259
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178722466:178722466(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs746136883
CDS Mutation c.21370C>T
AA Mutation p.Arg7124Ter(p.R7124*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 260
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178739803:178739803(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.12479T>A
AA Mutation p.Leu4160Ter(p.L4160*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 261
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178776472:178776472(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5392A>T
AA Mutation p.Lys1798Ter(p.K1798*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 262
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178779007:178779007(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4075G>T
AA Mutation p.Glu1359Ter(p.E1359*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 263
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178546385:178546385(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.90023G>A
AA Mutation p.Trp30008Ter(p.W30008*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 264
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178621978:178621978(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.40021A>T
AA Mutation p.Lys13341Ter(p.K13341*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 265
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178672097:178672097(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.33979G>T
AA Mutation p.Glu11327Ter(p.E11327*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 266
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178740346:178740346(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11936C>G
AA Mutation p.Ser3979Ter(p.S3979*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 267
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178594551:178594551(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.53020G>T
AA Mutation p.Glu17674Ter(p.E17674*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 268
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178535728:178535728(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.95964G>A
AA Mutation p.Trp31988Ter(p.W31988*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 269
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178568041:178568041(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.73168G>T
AA Mutation p.Glu24390Ter(p.E24390*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 270
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178598037:178598037(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.52210G>T
AA Mutation p.Gly17404Ter(p.G17404*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 271
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178617839:178617839(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs762271078
CDS Mutation c.42589C>T
AA Mutation p.Arg14197Ter(p.R14197*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 272
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178677846:178677846(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.33115G>T
AA Mutation p.Glu11039Ter(p.E11039*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 273
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178740646:178740646(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs370912401
CDS Mutation c.11636C>A
AA Mutation p.Ser3879Ter(p.S3879*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 274
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178741343:178741343(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10939G>T
AA Mutation p.Glu3647Ter(p.E3647*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 275
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178722030:178722030(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs764687326
CDS Mutation c.21682C>T
AA Mutation p.Arg7228Ter(p.R7228*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 276
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178547845:178547845(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.88858C>T
AA Mutation p.Arg29620Ter(p.R29620*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 277
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178634567:178634567(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs794729258
CDS Mutation c.37291C>T
AA Mutation p.Arg12431Ter(p.R12431*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 278
Mutation Consequence stop_gained
Transcription ID ENST00000591111
Start 178740227:178740227(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12055G>T
AA Mutation p.Glu4019Ter(p.E4019*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 279
Mutation Consequence frameshift_variant
Transcription ID ENST00000591111
Start 178794489:178794490(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.1307_1308insGA
AA Mutation p.Arg437ThrfsTer3(p.R437Tfs*3)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 280
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000591111
Start 178681739:178681739(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.32144-1G>T
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 281
Mutation Consequence splice_donor_variant
Transcription ID ENST00000591111
Start 178733612:178733612(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.14824+2T>G
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 282
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000591111
Start 178577899:178577899(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.63605-1G>T
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 283
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000591111
Start 178717811:178717811(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.24113-1G>A
Mutation Classification Splice_Site
Feature Type Transcript